Medical Specialties Commons^™

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …

Widefield Imaging Of Rapid Pan-Cortical Voltage Dynamics With An Indicator Evolved For One-Photon Microscopy, Xiaoyu Lu, Yunmiao Wang, Zhuohe Liu, Yueyang Gou, Dieter Jaeger, François St-Pierre

Faculty, Staff and Students Publications

Widefield imaging with genetically encoded voltage indicators (GEVIs) is a promising approach for understanding the role of large cortical networks in the neural coding of behavior. However, the limited performance of current GEVIs restricts their deployment for single-trial imaging of rapid neuronal voltage dynamics. Here, we developed a high-throughput platform to screen for GEVIs that combine fast kinetics with high brightness, sensitivity, and photostability under widefield one-photon illumination. Rounds of directed evolution produced JEDI-1P, a green-emitting fluorescent indicator with enhanced performance across all metrics. Next, we optimized a neonatal intracerebroventricular delivery method to achieve cost-effective and wide-spread JEDI-1P expression in …

Outcomes Of Hematopoietic Stem Cell Gene Therapy For Wiskott-Aldrich Syndrome, Roxane Labrosse, Julia I Chu, Myriam A Armant, John K Everett, Danilo Pellin, Niharika Kareddy, Andrew L Frelinger, Lauren A Henderson, Amy E O'Connell, Amlan Biswas, Jet Coenen-Van Der Spek, Alexandra Miggelbrink, Claudia Fiorini, Hriju Adhikari, Charles C Berry, Vito Adrian Cantu, Johnson Fong, Jason Jaroslavsky, Derin F Karadeniz, Quan-Zhen Li, Shantan Reddy, Aoife M Roche, Chengsong Zhu, Jennifer S Whangbo, Colleen Dansereau, Brenda Mackinnon, Emily Morris, Stephanie M Koo, Wendy B London, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Jenny M Despotovic, Lisa R Forbes Satter, Akihiko Saitoh, Yuta Aizawa, Alejandra King, Mai Anh Thi Nguyen, Vy Do Uyen Vu, Scott B Snapper, Anne Galy, Luigi D Notarangelo, Frederic D Bushman, David A Williams, Sung-Yun Pai

Faculty, Staff and Students Publications

Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, autoimmunity, and lymphoid malignancies. Gene therapy (GT) to modify autologous CD34+ cells is an emerging alternative treatment with advantages over standard allogeneic hematopoietic stem cell transplantation for patients who lack well-matched donors, avoiding graft-versus-host-disease. We report the outcomes of a phase 1/2 clinical trial in which 5 patients with severe WAS underwent GT using a self-inactivating lentiviral vector expressing the human WAS complementary DNA under the control of a 1.6-kB fragment of the autologous promoter after busulfan and fludarabine conditioning. All patients were alive and well …

Acute Aseptic Meningoencephalitis Due To Covid-19 In An Otherwise Healthy Patient: A Case Report, Shyama Appareddy, Norma Moncayo, Ronkino T. Mccoy, Jared Sperling, George Huddleston, Raza L. Kahn

Research Colloquium

Several studies have shown the extrapulmonary manifestations of COVID-19 disease caused by the SARS-CoV2 virus. Although extrapulmonary manifestation to the heart, kidney, blood, and skin are common, neurological and cerebrovascular manifestations are rare with most of these cases being described in patients who also have the pulmonary manifestation of the disease. Here we present the case of an 18 year-old male with no prior history of respiratory symptoms who presented to the emergency department with altered mental status. Neurology was consulted and the patient was started empirical on ceftriaxone, vancomycin, dexamethasone, and acyclovir for meningoencephalitis. Urine drug screen, head CT, …

A Rare Case Of Takotsubo Cardiomyopathy In An Elderly Lady During Hospital Stay, Himabindu Kolli, Ashika A. Chacko, Pooja Maknoor, Nazish Khan, Timothy Heath

Research Colloquium

Introduction: Takotsubo Cardiomyopathy (TTC) is an acute, reversible form of left ventricular systolic dysfunction, most often triggered by a sudden physical, or less commonly emotional event. Here, we describe a patient who developed Takotsubo Cardiomyopathy during her hospital stay.

Case Description: 74-year-old Hispanic lady, a nursing home resident presented to the ED with altered mental status. She was admitted for septic shock due to UTI. Echocardiogram demonstrated normal systolic function, with 60-65% LV ejection fraction. After initiation of antibiotic therapy, she showed clinical improvement with resolution of shock.

On day 8 of hospitalization, patient became emotionally upset and her clinical …

Sickle Cell Anemia In Hispanic-Americans In South Texas: Two Case Reports, Ashika A. Chacko, Shadi Jafari-Esfahani, Nevin A. Varghese

Research Colloquium

Introduction: Sickle cell anemia and traits are well described in the African-American population. Hispanic Americans are an underappreciated community affected by Sickle cell disease, where it affects about every 1 in 16300 live births compared to 1 in every 365 African-American births.Hence, it is essential to acknowledge the incidence in Latin American origin people to provide competent and specific care to these populations.

Case Description: Case 1: A 28-year-old Latin-American lady with sickle cell anemia, multiple transfusions, and exchange transfusion in the past presented with complaints of lower back and lower extremity pain. The patient got admitted with acute sickle …

Antibiotic Stewardship In Skin And Soft Tissue Infections, Shah Z. Ali, Stephen Gore, Jose E. Campo Maldonado

Research Colloquium

Introduction: Skin and soft tissue infections (SSTIs) are characterized by microbial invasion of the skin layers and are common in various healthcare settings. A study conducted between 2005-2010 in the United States, found a combined total of 2.3 million cases of SSTIs in ambulatory and inpatient settings. This was higher than the rates of pneumonia and urinary tract infections during the same time period. Another study found that between 2000 and 2012, there was a 40% increase (2.4 million to 3.3 million) in cases of SSTIs. Our aim is to study the primary uses of vancomycin and piperacillin/tazobactam and their …

Impact Of Multimedia Interventions For Musculoskeletal Health Amidst Covid-19 Pandemic, Kevin J. Orellana, Tarek Yamout, Guillermo Ramirez, Paul Treviño, Erick M. Santos, Letitia Bradford

Research Colloquium

Lower extremity joint pain is a leading cause of disability and immobility in the United States. Movement is Life seeks to educate and empower patients to break the cycle that immobility starts in efforts to improve musculoskeletal and overall emotional and physical wellbeing. Studies in the past have described the correlation that exists between using Movement is Life education materials as well as a home exercise program to improve lower extremity pain and overall health short term but did not account for confounding factors during the COVID-19 pandemic. The effect of the COVID-19 pandemic on health goes beyond patients that …

Femoral Neck Fracture Management In The Young Patient: A Case Review, Luis Berrios, Kevin J. Orellana, Michael Lago, Frank Gerold

Research Colloquium

Introduction:The optimal management of femoral neck fractures in the young patient remains controversial. Although there are universally accepted principles, there remains some variability in the optimal timing of surgery and method of fixation. In general, surgery should be performed on an urgent or emergent basis when feasible to decrease peri-operative complications, length of stay, and most importantly the ultimate likelihood of avascular necrosis. However, it is important to note that the preference toward a specific method of fixation remains heterogeneous among orthopedic surgeons.(1)

The purpose of this study is to present our preferred technique for treatment of displaced femoral …

A Puzzling Case Of Glutamic Acid Decarboxylase 65 (Gad65) Neurologic Syndrome, Areeb Masood, Nina Appareddy, Raul Tovar Castro, Zan Shareef, Laura Garcia

Research Colloquium

Autoimmune encephalitis (AE) is a rare group of neurological disorders in which antibodies are directed against intracellular or surface antigens. The incidence of AE ranged from between 0.4-1.2 per 100,000 person-years between 1995 and 2015. A subset of these autoimmune encephalitides that target glutamic acid decarboxylase (GAD) are termed anti-GAD related neurological disorders. GAD is the rate-limiting enzyme involved in the synthesis of GABA from glutamate, and is expressed in neurons of the cerebral cortex, cerebellum, and hippocampus. In addition, it is found in the B-islets of the pancreas, epithelial cells of the fallopian tube, and spermatocytes of the testes. …

Rare Case Of Prosthetic Joint Infection Caused By Salmonella Enterica - A Case Report, Carlos Ramos, Shyama Appareddy, Peter J. Gonzalez

Research Colloquium

Introduction: Collectively, over 1 million total knee arthroplasties (TKA) and total hip arthroplasties (THA) are performed in the United States each year. In 2010 it was estimated that 1.58% of the United States general population has received a TKA. Prosthetic joint infections (PJI) are the most common indication for a TKA revision1 . In total, S. aureus is responsible for about 50% of all prosthetic joint infections, and about 15% are caused by gram negative pathogens2 .

Objective: This is a case report which describes the presentation and clinical course of a 59-yearold female with Salmonella enterica septic arthritis of …

Prevalence Of Liver Cirrhosis And Its Association With Obesity Among Mexican Americans: An Evidence Synthesis, Alexa Perlick, Abaigeal Thompson, Colton Wayne, Angel Rendon, Jose E. Campo Maldonado

Research Colloquium

Introduction: Chronic liver disease is the 6^th and 7^th leading cause of death in Hispanic men and Hispanics, respectively.¹ In contrast to other causes of liver disease, the prevalence of nonalcoholic liver disease has been growing as is diabetes and obesity.²

Objective: There is a paucity of data regarding the prevalence of cirrhosis for Mexican Americans in South Texas. The aim of this evidence synthesis is to investigate the prevalence of cirrhosis in Hispanic populations and its relationship with obesity.

Methods: PubMed was used to perform a thorough literature search on September10, 2020. The terms “liver …

Assessing Morbidity In Patients With Greater Trochanteric Pain Syndrome (Gtps), Sonia Wadekar, Joel Wells

Research Colloquium

Introduction: Greater trochanteric pain syndrome (GTPS) continues to be a challenge among orthopedics to rid discomfort for their patients, especially since there are few studies on characterization of GTPS morbidity.

Objective: The purpose of this study is to characterize the morbidity of GTPS in order to aid orthopedics in providing an early diagnosis and better treatment/care options for their patients.

Methods: A total of 156 patients were included from January of 2016 to July of 2020. Refer to Figure 1 for a visual of inclusion criteria. All patient information was taken from first appointment notes, operative notes, chart reviews, and …

Severe Hyponatremia Associated With Partial Empty Sella Syndrome, Lily Chen, Shyama Appareddy, Laura Garcia

Research Colloquium

Hyponatremia, serum sodium concentration < 135 mmol/L, is further classified by patient volume status. Symptoms are dependent on the acuity of sodium loss. Acute onset hyponatremia can present with confusion, disorientation, headache, agitation, vomiting, and lethargy. Patients with hyponatremia warrant a thorough workup and can be a leading manifestation of hypopituitarism in the geriatric population. A 77 year old patient, history of pituitary adenoma, presented with generalized symptoms of fatigue, gait instability, poor appetite and confusion associated with severe hyponatremia and hypoglycemia. The patient has a history of pituitary adenoma treated with cabergoline, hypothyroidism treated with levothyroxine and gonadal insufficiency treated with testosterone, with no reported history of diuretic use. On admission, the patient had a sodium level of 116 mmol/L. While the patient reported improvement in symptoms, patient’s confusion was noted to persist despite appropriate correction of sodium and glucose. Patient had an AM cortisol of 4 mcg/dL. Cosyntropin test was conducted and noted to be negative. MRI Brain with Gadolinium revealed empty sella turcica with a small amount of enhancing pituitary tissue, which may indicate a response to previous cabergoline therapy. Despite negative cosyntropin results, the patient was suspected to have relative adrenal insufficiency due to multiple acute stressors including illness, hospitalization, disruption of routine and abrupt smoking cessation. Patient was given a trial of hydrocortisone with improvements noted in his mental status, strength and appetite. Thus, careful consideration should be given towards adrenal insufficiency secondary to hypopituitarism as an etiology for severe hyponatremia.

The Unusual Opportunistic Pathogen With Superbug Potential: A Case Of Morganella Morganii Bacteremia, Rodolfo Singleterry, Khairiya Haj-Yahya

Research Colloquium

Morganella. morganii is considered a rare and unusual cause of infection despite its vast presence worldwide. Recently there has been increasing documentation of its opportunistic ability to infect immunocompromised patients, most notably in intensive care units.

The patient is a 55-year-old female with a past medical history of diabetes mellitus(II), end-stage renal disease, hypertension, dyslipidemia, and a left above-knee amputation. She presented with shortness of breath, hypotension, and difficulties staying awake. Blood pressure on admission was 92/48 with an oxygen saturation of 82%. On physical exam, a 3cm linear non-purulent wound was found on the dorsum of her right foot. …

Multisystem Inflammatory Syndrome In Children (Mis-C): Is There A Relationship To Typhus?, Sravani Mannuru, Juliana Hager, Jacob Smith

Research Colloquium

The United Kingdom first reported in April 2020 a group of eight previously healthy children with a link to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) that presented with systemic inflammation and multi-organ involvement, now named multisystem inflammatory syndrome in children (MIS-C). The Centers of Disease Control and Prevention (CDC) have reported over 1000 cases since the primary discovery as of October 2020 with 20 total deaths. [1] The clinical features of MIS-C have been previously compared to inflammatory syndromes including Kawasaki disease (KD) and toxic shock syndrome (TSS). We describe the clinical presentation and management for 3 pediatric cases with …

Cmv? An Uncommon Etiology For Significant Disease In The Immunocompetent Individual, Ashley Sareen, Cade Call, Sonya Saenz

Research Colloquium

A 51-year-old Hispanic male with Type 2 diabetes mellitus and dyslipidemia was admitted from the ED for evaluation of recurrent fevers, multiple joint pains, and tachycardia. Physical exam findings included cachectic appearance and right inguinal lymphadenopathy. Initial laboratory testing was significant for a WBC of 23,300 (80.2% neutrophils, 13.3% lymphocytes), Hb of 11.1, HCT of 33.1, and ESR of 120. Chest x-ray reported no acute findings and x-ray imaging of affected joints were unremarkable. Blood and urine cultures would eventually return negative. Despite acetaminophen and broad-spectrum antibiotic use, the patient continued with fevers and tachycardia, prompting further infectious and rheumatological …

A Proof-Of-Concept Pilot Test Of A Behavioral Intervention To Improve Adherence To Dietary Recommendations For Cancer Prevention, Meghan Butryn, Charlotte Hagerman, Nicole Crane, Marny Ehmann, Evan Forman, Brandy-Joe Milliron, Nicole L. Simone

Department of Radiation Oncology Faculty Papers

OBJECTIVES: Prevention programs that can help adults improve the quality of their diets to reduce cancer risk are needed. This Phase IIa study prospectively tested a mHealth intervention designed to improve adherence to dietary quality guidelines for cancer prevention.

METHODS: All participants (N = 62) received nutrition education and a self-regulation skills curriculum, with a primary target of changing grocery shopping behavior. Using a randomized, factorial design, the study varied whether each of the following 4 components were added to the 20-week intervention: (1) location-triggered app messaging, delivered when individuals arrived at grocery stores, (2) reflections on benefits of change, …

Nrg/Rtog 0837: Randomized, Phase Ii, Double-Blind, Placebo-Controlled Trial Of Chemoradiation With Or Without Cediranib In Newly Diagnosed Glioblastoma, Tracy T. Batchelor, Minhee Won, Arnab Chakravarti, Costas G. Hadjipanayis, Wenyin Shi, Lynn S. Ashby, Volker W. Stieber, H. Ian Robins, Heidi J. Gray, Alfredo Voloschin, John B. Fiveash, Clifford G. Robinson, Ushasree Chamarthy, Young Kwok, Terrence P. Cescon, Anand K. Sharma, Rekha Chaudhary, Mei-Yin Polley, Minesh P. Mehta

Department of Radiation Oncology Faculty Papers

BACKGROUND: A randomized, phase II, placebo-controlled, and blinded clinical trial (NCT01062425) was conducted to determine the efficacy of cediranib, an oral pan-vascular endothelial growth factor receptor tyrosine kinase inhibitor, versus placebo in combination with radiation and temozolomide in newly diagnosed glioblastoma.

METHODS: Patients with newly diagnosed glioblastoma were randomly assigned 2:1 to receive (1) cediranib (20 mg) in combination with radiation and temozolomide; (2) placebo in combination with radiation and temozolomide. The primary endpoint was 6-month progression-free survival (PFS) based on blinded, independent radiographic assessment of postcontrast T1-weighted and noncontrast T2-weighted MRI brain scans and was tested using a 1-sided …

The Inherited Kras-Variant As A Biomarker Of Cetuximab Response In Nsclc, Joanne Weidhaas, Chen Hu, Ritsuko Komaki, Gregory Masters, George Blumenschein, Joe Chang, Bo Lu, Adam Dicker, Jeffrey Bogart, Yolanda Garces, Samir Narayan, Clifford Robinson, Vivek Kavadi, Joel S Greenberger, Christopher Koprowski, James Welsh, Elizabeth Gore, Robert Macrae, Rebecca Paulus, Jeffrey Bradley

Department of Radiation Oncology Faculty Papers

PURPOSE: RTOG 0617 was a phase III randomized trial for patients with unresectable stage IIIA/IIIB non-small cell lung cancer comparing standard-dose (60 Gy) versus high-dose (74 Gy) radiotherapy and chemotherapy, plus or minus cetuximab. Although the study was negative, based on prior evidence that patients with the KRAS-variant, an inherited germline mutation, benefit from cetuximab, we evaluated KRAS-variant patients in RTOG 0617.

EXPERIMENTAL DESIGN: From RTOG 0617, 328 of 496 (66%) of patients were included in this analysis. For time-to-event outcomes, stratified log-rank tests and multivariable Cox regression models were used. For binary outcomes, Cochran-Mantel-Haenzel tests and multivariable logistic regression …

Delay In Hospital Presentation Is The Main Reason Large Vessel Occlusion Stroke Patients Do Not Receive Intravenous Thrombolysis, Ethan Brandler, Derek Isenberg, Joseph Herres, Huaqing Zhao, Chadd Kraus, Daniel Ackerman, Adam Sigal, Alexander Kuc, Jason Nomura, Susan Wojcik, Michael Mullen, Nina Gentile

Department of Emergency Medicine Faculty Papers

OBJECTIVES: Intravenous thrombolysis (IVT) and endovascular therapy (EVT) are the mainstays of treatment for large vessel occlusion stroke (LVOS). Prior studies have examined why patients have not received IVT, the most cited reasons being last-known-well (LKW) to hospital arrival of >4.5 hours and minor/resolving stroke symptoms. Given that LVOS patients typically present moderate-to-severe neurologic deficits, these patients should be easier to identify and treat than patients with minor strokes. This investigation explores why IVT was not administered to a cohort of LVOS patients who underwent EVT.

METHODS: This is an analysis of the Optimizing the Use of Prehospital Stroke Systems …

Usp1 Promotes Cholangiocarcinoma Progression By Deubiquitinating Parp1 To Prevent Its Proteasomal Degradation, Deng Yong Zhang, Yan Zhu, Qiong Wu, Shuoshuo Ma, Yang Ma, Zheng Chao Shen, Zhonglin Wang, Wanliang Sun, Yong Chun Zhou, Dongdong Wang, Shuo Zhou, Zhong Liu, Lawrence N Kwong, Zheng Lu

Faculty, Staff and Student Publications

Despite its involvement in various cancers, the function of the deubiquitinase USP1 (ubiquitin-specific protease 1) is unexplored in cholangiocarcinoma (CCA). In this study, we provide evidence that USP1 promotes CCA progression through the stabilization of Poly (ADP-ribose) polymerase 1 (PARP1), consistent with the observation that both USP1 and PARP1 are upregulated in human CCA. Proteomics and ubiquitylome analysis of USP1-overexpressing CCA cells nominated PARP1 as a top USP1 substrate. Indeed, their direct interaction was validated by a series of immunofluorescence, co-immunoprecipitation (CO-IP), and GST pull-down assays, and their interaction regions were identified using deletion mutants. Mechanistically, USP1 removes the ubiquitin …

Functional Analysis Reveals Driver Cooperativity And Novel Mechanisms In Endometrial Carcinogenesis, Matthew Brown, Alicia Leon, Katarzyna Kedzierska, Charlotte Moore, Hayley L Belnoue-Davis, Susanne Flach, John P Lydon, Francesco J Demayo, Annabelle Lewis, Tjalling Bosse, Ian Tomlinson, David N Church

Faculty, Staff and Students Publications

High-risk endometrial cancer has poor prognosis and is increasing in incidence. However, understanding of the molecular mechanisms which drive this disease is limited. We used genetically engineered mouse models (GEMM) to determine the functional consequences of missense and loss of function mutations in Fbxw7, Pten and Tp53, which collectively occur in nearly 90% of high-risk endometrial cancers. We show that Trp53 deletion and missense mutation cause different phenotypes, with the latter a substantially stronger driver of endometrial carcinogenesis. We also show that Fbxw7 missense mutation does not cause endometrial neoplasia on its own, but potently accelerates carcinogenesis caused by Pten …

Polygenic Prediction Across Populations Is Influenced By Ancestry, Genetic Architecture, And Methodology, Ying Wang, Masahiro Kanai, Taotao Tan, Mireille Kamariza, Kristin Tsuo, Kai Yuan, Wei Zhou, Yukinori Okada, Biobank Japan Project, Hailiang Huang, Patrick Turley, Elizabeth G Atkinson, Alicia R Martin

Faculty, Staff and Students Publications

Polygenic risk scores (PRSs) developed from multi-ancestry genome-wide association studies (GWASs), PRSmulti, hold promise for improving PRS accuracy and generalizability across populations. To establish best practices for leveraging the increasing diversity of genomic studies, we investigated how various factors affect the performance of PRSmulti compared with PRSs constructed from single-ancestry GWASs (PRSsingle). Through extensive simulations and empirical analyses, we showed that PRSmulti overall outperformed PRSsingle in understudied populations, except when the understudied population represented a small proportion of the multi-ancestry GWAS. Furthermore, integrating PRSs based on local ancestry-informed GWASs and large-scale, European-based PRSs improved predictive performance in understudied African populations, …

Integrating An Evidence Based Medicine Module Presentation Into The Ob-Gyn Clerkship, Judith Mathess, Betsy Gauthier, Zenab Saeed, Ngozi Anachebe, Rose A. Maxwell, Jason C. Massengill, Marilyn Kindig

Obstetrics and Gynecology Faculty Publications

Introduction: During the preclinical curriculum, students are introduced to EBM principles, however structured application to clinical medicine varies throughout clinical experiences. Application of EBM in a clinical educational environment affords students opportunities to practice required skills.

Methods: Students selected a patient case and formulated a question related to diagnosis ortreatment using the PICO framework. Students selected research publications related to the patient case, critically appraised their validity and generalization, and developed a comprehensive presentation involving a case summary and related EBM topics, which were evaluated by a faculty member using a rubric developed for the project. To assess the effectiveness …

Dbapis: A Database Of Anti-Prokaryotic Immune System Genes, Yuchen Yan, Jinfang Zheng, Xinpeng Zhang, Yanbin Yin

Food for Health: Publications

Anti-prokary otic immune sy stem (APIS) proteins, typically encoded b y phages, prophages, and plasmids, inhibit prokaryotic immune systems (e.g. restriction modification, to xin-antito xin, CRISPR-Cas). A gro wing number of APIS genes ha v e been characterized and dispersed in the literature. Here w e de v eloped dbAPIS ( https:// bcb.unl.edu/ dbAPIS ), as the first literature curated data repository for experimentally verified APIS genes and their associated protein f amilies. T he k e y features of dbAPIS include: (i) e xperimentally v erified APIS genes with their protein sequences, functional annotation, PDB or AlphaFold predicted str …

Undescended Superior Parathyroid: A Case Report, Elliott M. Sina, Chihun J. Han, Elizabeth E. Cottrill

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Aberrant migration of parathyroid glands from their embryologic origin may result in undescended parathyroid glands. We present a case of an ectopic parathyroid adenoma at the level of the pyriform sinus. A 41-year-old female was evaluated for primary hyperparathyroidism. Following non-localizing ultrasound and planar sestamibi imaging, the patient underwent SPECT/CT and 4-D computed tomography demonstrating evidence of an ectopic parathyroid adenoma. The surgical approach was modified based on the location. Following extirpation, PTH fell from 80 to 16 pg/mL, and the 15-min post-excision level remained stable at 14pg/mL, indicating a biochemical cure. While rare, undescended parathyroid adenoma should be considered …

Assessing Kidney Transplantation Using Ecmo-Supported Donors Within A Kdpi-Based Allocation System, Peter J. Altshuler, Devon J. Pace, William A. Preston, Sage Vincent, Ashesh P. Shah, Jaime M. Glorioso, Warren R. Maley, Adam M. Frank, Carlo B. Ramirez, Sharon West, Richard Hasz Jr., Adam S. Bodzin

Department of Surgery Faculty Papers

Background.

Organ donors supported by extracorporeal membrane oxygenation (ECMO) have historically been considered high-risk and are judiciously utilized. This study examines transplant outcomes using renal allografts from donors supported on ECMO for nondonation purposes.

Methods.

Retrospective review of the Gift of Life (Pennsylvania, New Jersey, Delaware) organ procurement organization database, cross-referenced to the Organ Procurement and Transplantation Network database, assessed kidney transplants using donors supported on venoarterial (VA) and venovenous (VV) ECMO for nondonation purposes. Transplants using VA- and VV-ECMO donors were compared with Kidney Donor Profile Index (KDPI)-stratified non-ECMO donors. Regression modeling of the entire ECMO and non-ECMO populations …

Vaccination With A Replication-Defective Cytomegalovirus Vaccine Elicits A Glycoprotein B-Specific Monoclonal Antibody Repertoire Distinct From Natural Infection, Sarah M Valencia, Eric Rochat, Melissa J Harnois, Maria Dennis, Helen S Webster, Bhavna Hora, Amit Kumar, Hsuan-Yuan Sherry Wang, Leike Li, Daniel Freed, Ningyan Zhang, Zhiqiang An, Dai Wang, Sallie R Permar

Faculty, Staff and Student Publications

Human Cytomegalovirus (HCMV) is the leading infectious congenital infection globally and the most common viral infection in transplant recipients, therefore identifying a vaccine for HCMV is a top priority. Humoral immunity is a correlate of protection for HCMV infection. The most effective vaccine tested to date, which achieved 50% reduction in acquisition of HCMV, was comprised of the glycoprotein B protein given with an oil-in-water emulsion adjuvant MF59. We characterize gB-specific monoclonal antibodies isolated from individuals vaccinated with a disabled infectious single cycle (DISC) CMV vaccine, V160, and compare these to the gB-specific monoclonal antibody repertoire isolated from naturally-infected individuals. …

Integrated Molecular Characterization Of Intraductal Papillary Mucinous Neoplasms: An Nci Cancer Moonshot Precancer Atlas Pilot Project, Alexander Semaan, Vincent Bernard, Justin Wong, Yuki Makino, Daniel B Swartzlander, Kimal I Rajapakshe, Jaewon J Lee, Adam Officer, Christian Max Schmidt, Howard H Wu, Courtney L Scaife, Kajsa E Affolter, Daniela Nachmanson, Matthew A Firpo, Michele Yip-Schneider, Andrew M Lowy, Olivier Harismendy, Subrata Sen, Anirban Maitra, Yasminka A Jakubek, Paola A Guerrero

Faculty, Staff and Student Publications

Intraductal papillary mucinous neoplasms (IPMN) are cystic precursor lesions to pancreatic ductal adenocarcinoma (PDAC). IPMNs undergo multistep progression from low-grade (LG) to high-grade (HG) dysplasia, culminating in invasive neoplasia. While patterns of IPMN progression have been analyzed using multiregion sequencing for somatic mutations, there is no integrated assessment of molecular events, including copy-number alterations (CNA) and transcriptional changes that accompany IPMN progression. We performed laser capture microdissection on surgically resected IPMNs of varying grades of histologic dysplasia obtained from 23 patients, followed by whole-exome and whole-transcriptome sequencing. Overall, HG IPMNs displayed a significantly greater aneuploidy score than LG lesions, with …