Digital Commons Network^™

Gabapentin Disrupts Binding Of Perlecan To The Α 2Δ1 Voltage Sensitive Calcium Channel Subunit And Impairs Skeletal Mechanosensation, Perla C Reyes Fernandez, Christian S Wright, Adrianna N Masterson, Xin Yi, Tristen V Tellman, Katie Rust, Kenneth E White, Karl J Lewis, Uma Sankar, Julia M Hum, Gregory Bix, Danielle Wu, Alexander G Robling, Rajesh Sardar, Mary C Farach-Carson, William R Thompson

Faculty, Staff and Student Publications

Our understanding of how osteocytes, the principal mechanosensors within bone, sense and perceive force remains unclear. Previous work identified "tethering elements" (TEs) spanning the pericellular space of osteocytes and transmitting mechanical information into biochemical signals. While we identified the heparan sulfate proteoglycan perlecan (PLN) as a component of these TEs, PLN must attach to the cell surface to induce biochemical responses. As voltage-sensitive calcium channels (VSCCs) are critical for bone mechanotransduction, we hypothesized that PLN binds the extracellular α2δ1 subunit of VSCCs to couple the bone matrix to the osteocyte membrane. Here, we showed co-localization of PLN and α2δ1 along …

Experiences Of Parents With Opioid Use Disorder During Their Attempts To Seek Treatment: A Qualitative Analysis

Faculty, Staff and Student Publications

In the U.S., 12.3% of children live with at least one parent who has a substance use disorder. Prior research has shown that men are more likely to seek treatment than women and that the barriers are different; however, there is limited research focusing specifically on opioid use disorder (OUD). We sought to understand the barriers and motivators for parents with OUD. We conducted a qualitative study by interviewing parents with OUD who were part of an outpatient treatment program. Interviews followed a semi-structured format with questions on access to and motivation for treatment. The interviews were recorded and transcribed …

Advancing Access To Healthcare Through Telehealth: A Brownsville Community Assessment

Faculty, Staff and Student Publications

(1) Background: This paper focuses on the development of a community assessment for telehealth using an interprofessional lens, which sits at the intersection of public health and urban planning using multistakeholder input. The paper analyzes the process of designing and implementing a telemedicine plan for the City of Brownsville and its surrounding metros. (2) Methods: We employed an interprofessional approach to CBPR which assumed all stakeholders as equal partners alongside the researchers to uncover the most relevant and useful knowledge to inform the development of telehealth community assessment. (3) Results: Key findings include that: physicians do not have the technology, …

Effect Of Temperature Cycling Pretreatment On The Thermal Stability Of Sm2(Co, Fe, Zr, Cu)17 Magnets In The Mild Temperature Range, Chaoqun Li, Dalong Cong, Bin Shao, Xiaowei Liu, Jianchun Sun, Yilong Ma

Faculty, Staff and Student Publications

The irredeemable magnetic losses of Sm(Co, Fe, Zr, Cu)7.8 permanent magnets caused by oxidation are very important for their practical application. In this work, the simulated results with R2 ≥ 98% based on the data of the temperature cycling test and the long-term isothermal test for the original samples confirmed that the magnetic flux losses reached 9.38% after the 5000th cycle in range R.T.–300 °C, and 7.15% after oxidated at 180 °C for 10 years, respectively. Demagnetization curves showed that the low-temperature oxidation mainly led to the remanence attenuation, while the coercivity remained relatively stable. SEM observation and EDS …

A Text-Based Smoking Cessation Intervention For Sexual And Gender Minority Groups: Protocol For A Feasibility Trial, Irene Tami-Maury, Rebecca Klaff, Allison Hussin, Nathan Grant Smith, Shine Chang, Lorraine R Reitzel, Lorien C Abroms

Faculty, Staff and Student Publications

BACKGROUND: Smoking among sexual and gender minority (SGM) groups, which include lesbian, gay, bisexual, transgender, and queer individuals, has been reported to be highly prevalent. This is attributed to several factors, including minority-specific stress and targeted tobacco marketing. Therefore, this population is at an increased risk for tobacco-related diseases. SMS text messaging programs have been found to be effective for smoking cessation and appeal to traditionally hard-to-reach populations over other interventions. It has also been suggested that targeted and tailored interventions could be more effective among SGM smokers because they can be designed to assure a safe, validating health care …

Human Rabies - Texas, 2021, Jael Miller, Elvia Ledezma, Misti Ellsworth, Andrea Carlo-Angleró, Michael Niezgoda, Crystal M Gigante, Agam K Rao, Panayampalli S Satheshkumar, Gloria P Heresi, Amanda Kieffer, Ryan M Wallace

Faculty, Staff and Student Publications

In late August 2021, a boy aged 7 years was bitten by a bat while he was playing outside his apartment home in Medina County, Texas. He informed his parents; however, no rabies postexposure prophylaxis (PEP) was sought because there were no visible bite marks, and the family was unaware that contact with a bat, including in the absence of visible bite marks, might cause rabies. Approximately 2 months later, the child was hospitalized for altered mental status, seizures, and hypersalivation and ultimately received a diagnosis of rabies. Experimental therapies were attempted; however, the child died 22 days after symptom …

Stillbirth After Adolescent And Young Adult Cancer: A Population-Based Study, Sharice M Preston, Sandi L Pruitt

Faculty, Staff and Student Publications

BACKGROUND: Gonadotoxic effects of cancer treatment may increase risk of adverse birth outcomes in adolescent and young adult (AYA, aged 15-39 years) women diagnosed with cancer. We estimated risk of stillbirth (fetal death of gestational age ≥20 weeks or weighing ≥350 grams) in a population-based sample of AYA women.

METHODS: AYA women diagnosed with cancer between January 1, 1995, and December 31, 2015, were identified using the Texas Cancer Registry and linked to live birth and fetal death certificates through December 31, 2016. Among AYA women, cumulative incidence of stillbirth was estimated by gestational age, and Poisson regression models identified …

Clinical Trial Development In Tp53-Mutated Locally Advanced And Recurrent And/Or Metastatic Head And Neck Squamous Cell Carcinoma, Cristina P Rodriguez, Hyunseok Kang, Jessica L Geiger, Barbara Burtness, Christine H Chung, Carole Fakhry, Sue S Yom, Thomas J Galloway, Erica Golemis, Alice Li, Jeffrey Shoop, Stuart Wong, Ranee Mehra, Heath Skinner, Nabil F Saba, Elsa R Flores, Jeffrey N Myers, James M Ford, Rachel Karchin, Robert L Ferris, Charles Kunos, Jean M Lynn, Shakun Malik

Faculty, Staff and Student Publications

TP53 mutation is the most frequent genetic event in head and neck squamous cell carcinoma (HNSCC), found in more than 80% of patients with human papillomavirus-negative disease. As mutations in the TP53 gene are associated with worse outcomes in HNSCC, novel therapeutic approaches are needed for patients with TP53-mutated tumors. The National Cancer Institute sponsored a Clinical Trials Planning Meeting to address the issues of identifying and developing clinical trials for patients with TP53 mutations. Subcommittees, or breakout groups, were tasked with developing clinical studies in both the locally advanced and recurrent and/or metastatic (R/M) disease settings as well as …

Potential Probiotic Properties Of Exopolysaccharide-Producing Lacticaseibacillus Paracasei Eps Da-Bacs And Prebiotic Activity Of Its Exopolysaccharide, Min-Gyu Lee, Huijin Joeng, Jaein Shin, Suin Kim, Chaeeun Lee, Byung-Hoo Lee, Tae-Ho Lee, Hai-Hua Jiang, Young-Sun Han, Bong-Gyeong Lee, Ho-Jin Lee, Min-Ju Park, Yun-Ju Jun, Young-Seo Park

Faculty, Staff and Student Publications

Exopolysaccharide (EPS)-producing Lacticaseibacillus paracasei EPS DA-BACS was isolated from healthy human feces and its probiotic properties, as well as the structure and prebiotic activity of the EPS from this strain were examined. EPS from L. paracasei EPS DA-BACS had a ropy phenotype, which is known to have potential health benefits and is identified as loosely cell-bounded glucomannan-type EPS with a molecular size of 3.7 × 106 Da. EPS promoted the acid tolerance of L. paracasei EPS DA-BACS and provided cells with tolerance to gastrointestinal stress. The purified EPS showed growth inhibitory activity against Clostridium difficile. L. paracasei EPS DA-BACS cells …

Targeting Tmem205 Mediated Drug Resistance In Ovarian Clear Cell Carcinoma Using Oncolytic Virus, Uksha Saini, Brentley Q Smith, Kalpana Deepa Priya Dorayappan, Ji Young Yoo, G Larry Maxwell, Ikuo Konishi, David E Cohn, Karuppaiyah Selvendiran

Faculty, Staff and Student Publications

BACKGROUND: Ovarian clear cell carcinoma (OCCC) accounts for approximately 8-10% of epithelial ovarian cancers in the United States. Although it is rare, OCCC usually presents with treatment challenges and the overall prognosis is far worse than high grade serous ovarian cancer HGSOC. The objective of this study was to examine the therapeutic relevance of combining oncolytic virus with cisplatin for ovarian cancer clear cell carcinoma (OCCC).

RESULTS: We identified that TMEM205, a recently discovered transmembrane protein, contributes to chemoresistance in OCCC cells via the exosomal pathway. Mechanistically, TMEM205 undergoes ligand-independent constitutive endocytosis and co-localizes with Rab11 to contribute to the …

Heavy Metals In Four Marine Fish And Shrimp Species From A Subtropical Coastal Area: Accumulation And Consumer Health Risk Assessment, Mohammad Belal Hossain, Nurer Zaman Bhuiyan, Abul Kasem, Md Kamal Hossain, Salma Sultana, Jimmy Yu, Takaomi Arai

Faculty, Staff and Student Publications

Trace-element or heavy-metal pollution has emerged as a serious concern in terms of both environmental and human health issues. This study measured six trace and toxic heavy metals (Pb, Cd, Cr, Ni, Cu, and Zn) in four marine fish and shrimp species to assess their accumulation levels and evaluate the risks to human health. The mean concentrations of the metals in fish and shrimp species (Labeo bata, Sillaginopsis panijus, Platycepalus fuscus, and Penaeus monodon) followed the decreasing order of Zn (40.8 ± 9.7 μg/g) > Cu (17.8 ± 7.1 μg/g) > Pb (6.2 ± 1.8 μg/g) > Ni (0.4 ± 0.3 μg/g) > Cd …

Prognostic Significance Of P16 And Its Relationship With Human Papillomavirus Status In Patients With Penile Squamous Cell Carcinoma: Results Of 5 Years Follow-Up, Jad Chahoud, Niki M Zacharias, Rachel Pham, Wei Qiao, Ming Guo, Angelita Alaniz, Magaly Martinez-Ferrer, Frederico Omar Gleber-Netto, Curtis R Pickering, Priya Rao, Curtis A Pettaway

Faculty, Staff and Student Publications

Penile Squamous Cell Carcinoma (PSCC) is associated with high-risk human papillomavirus (HR-HPV). The immunohistochemical (IHC) test for p16INK4a (p16) is highly correlated with HR-HPV expression in other SCCs. To investigate whether the expression of p16 IHC or HR-HPV is associated with survival in PSCC, we conducted a single institution analysis of 143 patients with a diagnosis of PSCC and, available tissue were tested for p16 IHC staining patterns, histological subtype, tumor grade, and lymphovascular invasion (LVI) by an experienced pathologist. HR-HPV status using the Cobas PCR Assay or the RNAScope high-risk HPV in situ hybridization kit were also assessed. Patient …

Transient Receptor Potential Channels In Cardiovascular And Renal Diseases

Faculty, Staff and Student Publications

Transient receptor potential (TRP) channels belong to a superfamily of integral membrane proteins with diverse functions in sensory perception and cellular physiology [...].

A Unified Model Of Age-Related Cardiovascular Disease, Michael Fossel, Joe Bean, Nina Khera, Mikhail G Kolonin

Faculty, Staff and Student Publications

Despite progress in biomedical technologies, cardiovascular disease remains the main cause of mortality. This is at least in part because current clinical interventions do not adequately take into account aging as a driver and are hence aimed at suboptimal targets. To achieve progress, consideration needs to be given to the role of cell aging in disease pathogenesis. We propose a model unifying the fundamental processes underlying most age-associated cardiovascular pathologies. According to this model, cell aging, leading to cell senescence, is responsible for tissue changes leading to age-related cardiovascular disease. This process, occurring due to telomerase inactivation and telomere attrition, …

Modulation Of Sirtuins During Monolayer Chondrocyte Culture Influences Cartilage Regeneration Upon Transfer To A 3d Culture Environment, David A Lee

Faculty, Staff and Student Publications

This study examined the role of sirtuins in the regenerative potential of articular chondrocytes. Sirtuins (SIRT1-7) play a key role in regulating cartilage homeostasis. By inhibiting pro-inflammatory pathways responsible for cartilage degradation and promoting the expression of key matrix components, sirtuins have the potential to drive a favourable balance between anabolic and catabolic processes critical to regenerative medicine. When subjected to osmolarity and glucose concentrations representative of the in vivo niche, freshly isolated bovine chondrocytes exhibited increases in SIRT1 but not SIRT3 gene expression. Replicating methods adopted for the in vitro monolayer expansion of chondrocytes for cartilage regenerative therapies, we …

Procedural Outcomes After Percutaneous Coronary Interventions In Focal And Diffuse Coronary Artery Disease, Michael Maeng, Bjarne L Nørgaard, Jonathon Leipsic, Toshiro Shinke, Daniel Munhoz, Niya Mileva, Marta Belmonte, Hirofumi Ohashi, Emanuele Barbato, Nils P Johnson, Bernard De Bruyne, Carlos Collet

Faculty, Staff and Student Publications

Background

Coronary artery disease (CAD) patterns play an essential role in the decision‐making process about revascularization. The pullback pressure gradient (PPG) quantifies CAD patterns as either focal or diffuse based on fractional flow reserve (FFR) pullbacks. The objective of this study was to evaluate the impact of CAD patterns on acute percutaneous coronary intervention (PCI) results considered surrogates of clinical outcomes.

Methods and Results

This was a prospective, multicenter study of patients with hemodynamically significant CAD undergoing PCI. Motorized FFR pullbacks and optical coherence tomography (OCT) were performed before and after PCI. Post‐PCI FFR >0.90 was considered an optimal result. …

The Rheumatoid Arthritis Drug Auranofin Lowers Leptin Levels And Exerts Antidiabetic Effects In Obese Mice, Aaron R Cox, Peter M Masschelin, Pradip K Saha, Jessica B Felix, Robert Sharp, Yan Xia, David A Bader, Kang Ho Kim, Xin Li, Jun Yoshino, Xin Li, Gang Li, Zheng Sun, Huaizhu Wu, Cristian Coarfa, David D Moore, Samuel Klein, Kai Sun, Sean M Hartig

Faculty, Staff and Student Publications

Low-grade, sustained inflammation in white adipose tissue (WAT) characterizes obesity and coincides with type 2 diabetes mellitus (T2DM). However, pharmacological targeting of inflammation lacks durable therapeutic effects in insulin-resistant conditions. Through a computational screen, we discovered that the FDA-approved rheumatoid arthritis drug auranofin improved insulin sensitivity and normalized obesity-associated abnormalities, including hepatic steatosis and hyperinsulinemia in mouse models of T2DM. We also discovered that auranofin accumulation in WAT depleted inflammatory responses to a high-fat diet without altering body composition in obese wild-type mice. Surprisingly, elevated leptin levels and blunted beta-adrenergic receptor activity achieved by leptin receptor deletion abolished the antidiabetic …

Executive Summary Of The American Radium Society Appropriate Use Criteria For Management Of Uterine Clear Cell And Serous Carcinomas, Tracy Sherertz, Anuja Jhingran, Matthew Biagioli, David Gaffney, Mohamed Elshaikh, Matthew Harkenrider, Shruti Jolly, Catheryn Yashar, Lorraine Portelance, Andrew Wahl, Aradhana Venkatesan, Linna Li, William Small, American Radium Society

Faculty, Staff and Student Publications

Background: Uterine clear cell and serous carcinomas have a high propensity for locoregional and distant spread, tend to be more advanced at presentation, and carry a higher risk of recurrence and death than endometrioid cancers. Limited prospective data exist to guide evidence-based management of these rare malignancies.

Objective: The American Radium Society sought to summarize evidence-based guidelines developed by a multidisciplinary expert panel that help to guide the management of uterine clear cell and serous carcinomas.

Methods: The American Radium Society Appropriate Use Criteria presented in this manuscript were developed by a multidisciplinary expert panel using an extensive analysis of …

Temporal And Spatial Metabolite Dynamics Impart Control In Adipogenesis, Kristin Eckel-Mahan

Faculty, Staff and Student Publications

The process of adipogenesis is critical for forming new, healthy adipocytes that are capable of storing lipids. In this issue, Sánchez-Ramírez and Ung et al. (2022. J. Cell Biol. https://doi.org/10.1083/jcb.202111137) reveal a novel role for the metabolite nicotinamide adenine dinucleotide in controlling differentiation of mesenchymal stromal cells into adipocytes.

Coronary Artery Calcium Score On Standard Of Care Oncologic Ct Scans For The Prediction Of Adverse Cardiovascular Events In Patients With Non-Small Cell Lung Cancer Treated With Concurrent Chemoradiotherapy, Efstratios Koutroumpakis, Ting Xu, Juan Lopez-Mattei, Tinsu Pan, Yang Lu, Radhe Mohan, Qing H Meng, Ruitao Lin, Tianlin Xu, Anita Deswal, Zhongxing Liao

Faculty, Staff and Student Publications

INTRODUCTION: Chemoradiotherapy (CRT) has been associated with increased incidence of cardiovascular (CV) adverse events (CVAE). Coronary artery calcium scoring (CAC) has shown to predict coronary events beyond the traditional CV risk factors. This study examines whether CAC, measured on standard of care, non-contrast chest CT (NCCT) imaging, predicts the development of CVAE in patients with non-small cell lung cancer (NSCLC) treated with CRT.

METHODS: Patients with NSCLC treated with CRT at MD Anderson Cancer Center from 7/2009 until 4/2014 and who had at least one NCCT scan within 6 months from their first CRT were identified. CAC scoring was performed …

Sustained Aurora Kinase B Expression Confers Resistance To Pi3k Inhibition In Head And Neck Squamous Cell Carcinoma, Pooja A Shah, Vaishnavi Sambandam, Anne M Fernandez, Hongyun Zhao, Tuhina Mazumdar, Qi Wang, Soma Ghosh, Mitchell J Frederick, Jing Wang, Faye M Johnson

Faculty, Staff and Student Publications

UNLABELLED: Tumor suppressor mutations in head and neck squamous cell carcinoma (HNSCC) dominate the genomic landscape, hindering the development of effective targeted therapies. Truncating and missense mutations in NOTCH1 are frequent in HNSCC, and inhibition of PI3K can selectively target NOTCH1 mutant (NOTCH1MUT) HNSCC cells. In this study, we identify several proteins that are differentially regulated in HNSCC cells after PI3K inhibition based on NOTCH1MUT status. Expression of Aurora kinase B (Aurora B), AKT, and PDK1 following PI3K inhibition was significantly lower in NOTCH1MUT cell lines than in wild-type NOTCH1 (NOTCH1WT) cells or NOTCH1MUT cells with acquired resistance to PI3K …

Effect Of The Environment On Home-Based Self-Sampling Kits For Anal Cancer Screening, Maria E Fernandez, Jennifer S Smith, Ellen A Schneider, Bridgett Brzezinski, Alan G Nyitray

Faculty, Staff and Student Publications

BACKGROUND: Anal cancer incidence has increased in Western countries in recent decades and currently there are no consensus screening guidelines. Home-based self-sampling kits might facilitate screening for anal precancer/cancer but could require travel through postal mail where they may experience extreme temperatures or long transport times.

OBJECTIVE: To determine the effect of the environment on specimen adequacy for HPV genotyping of a mailed home-based self-sampling anal cancer screening kit.

STUDY DESIGN: The Prevent Anal Cancer (PAC) Study in Milwaukee, Wisconsin recruited men who have sex with men (MSM) and transgender persons 25 years of age and older. Participants were randomized …

Clinical And Patient-Reported Outcomes After Recession Coverage Using Modified Vestibular Incision Subperiosteal Tunnel Access With A Volume-Stable Collagen Matrix As Compared To A Coronally Advanced Flap With A Subepithelial Connective Tissue Graft

Faculty, Staff and Student Publications

Purpose: Coronally advanced split-or full-thickness (CAST or CAFT) flaps in combination with subepithelial connective tissue grafts (SCTGs) are commonly used in root-coverage procedures despite postoperative pain and bleeding from the graft donor site. Therefore, the modified vestibular incision subperiosteal tunnel access procedure (VISTAX) uses a novel collagen matrix (VCMX) instead of autogenous tissue to address the limitations associated with autogenous tissue grafting. This retrospective study compared the clinical outcomes of VISTAX to the results obtained after using a CAST or CAFT flap in combination with SCTG for root coverage.

Methods: Patients with single or multiple adjacent recession I/II defects were …

Leveraging Pleiotropy To Discover And Interpret Gwas Results For Sleep-Associated Traits, Heming Wang, Katie L Stone, Sina A Gharib, Sutapa Mukherjee, Lyle J Palmer, David Hillman, Jerome I Rotter, Craig L Hanis, John A Stamatoyannopoulos, Susan Redline, Chris Cotsapas, Shamil R Sunyaev

Faculty, Staff and Student Publications

Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multiple genetic associations. We present a strategy to leverage pleiotropy between traits to both discover new loci and to provide mechanistic hypotheses of the underlying pathophysiology. Specifically, we combine a colocalization test with a locus-level test of pleiotropy. In simulations, we show that this approach is highly selective for identifying true pleiotropy driven by the same causative variant, thereby improves the chance to replicate the associations …

Food Safety Attitudes, Behaviors, And Hygiene Measures Among Predominantly Low-Income Parents In Houston, Texas, Charles Darkoh

Faculty, Staff and Student Publications

ABSTRACT: Foodborne infections in the United States affect racial-ethnic minority and low-income populations at higher rates than the general population. to identify the prevalence of food safety behaviors and demographic characteristics associated with food handling practices among a susceptible, high-risk population, a cross-sectional survey was administered to 106 parents with children enrolled at two elementary schools serving predominantly low-income families in Houston, Texas. Relationships between demographic characteristics and food safety behavioral outcomes were examined using cross-tabulations and Fisher's exact test. Most respondents were female (93.4%), Hispanic, Latino, or Mexican American (94.9%), and had no previous food handling employment experience (75.0%). …

A Systematic Approach To Configuring Metamap For Optimal Performance, Yang Gong, James J Cimino, Dean F Sittig, Lior Rennert, David Robinson, Paul Biondich, Adam Wright, Christian Nøhr, Timothy Law, Arild Faxvaag, Ronald Gimbel

Faculty, Staff and Student Publications

BACKGROUND: MetaMap is a valuable tool for processing biomedical texts to identify concepts. Although MetaMap is highly configurative, configuration decisions are not straightforward.

OBJECTIVE: To develop a systematic, data-driven methodology for configuring MetaMap for optimal performance.

METHODS: MetaMap, the word2vec model, and the phrase model were used to build a pipeline. For unsupervised training, the phrase and word2vec models used abstracts related to clinical decision support as input. During testing, MetaMap was configured with the default option, one behavior option, and two behavior options. For each configuration, cosine and soft cosine similarity scores between identified entities and gold-standard terms were …

Association Of Apremilast With Vascular Inflammation And Cardiometabolic Function In Patients With Psoriasis: The Vip-A Phase 4, Open-Label, Nonrandomized Clinical Trial, Andrew Blauvelt, Robert Fitzsimmons, Justin Rodante, Philip Parel, Grigory A Manyak, Laurel Mendelsohn, Megan H Noe, Maryte Papadopoulos, Maha N Syed, Thomas J Werner, Joy Wan, Martin P Playford, Abass Alavi, Nehal N Mehta

Faculty, Staff and Student Publications

IMPORTANCE: Psoriasis is an inflammatory condition associated with metabolic and cardiovascular disease. Apremilast, a phosphodiesterase 4 inhibitor, is commonly used for psoriasis and can cause weight loss.

OBJECTIVE: To determine the association between apremilast and aortic vascular inflammation as assessed by 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT), cardiometabolic markers (primary outcomes at week 16), and abdominal fat composition.

DESIGN, SETTING, AND PARTICIPANTS: A single-arm, open-label, interventional, nonrandomized clinical trial in which the imaging and laboratory outcomes were measured by an investigator who was blinded to time was conducted between April 11, 2017, and August 17, 2021, at 7 dermatology sites …

Liver Injury After Sars‐Cov‐2 Vaccination: Features Of Immune-Mediated Hepatitis, Role Of Corticosteroid Therapy And Outcome, Albert Stättermayer, Christine Bernsmeier, Özlem Gül, Fatima Higuera-De La Tijera, Margarita Anders, Ellina Lytvyak, Mete Akın, Tugrul Purnak, Rodrigo Liberal, Mirta Peralta, Berat Ebik, Serkan Duman, Nurhan Demir, Yasemin Balaban, Álvaro Urzua, Fernando Contreras, Maria Grazia Venturelli, Yılmaz Bilgiç, Adriana Medina, Marcos Girala, Fulya Günşar, Maria-Carlota Londoño, Theodoros Androutsakos, Ayelen Kisch, Alper Yurci, Fatih Güzelbulut, Yasir Furkan Çağın, Enver Avcı, Murat Akyıldız, Emine Kübra Dindar-Demiray, Murat Harputluoğlu, Rahul Kumar, Sanjaya K Satapathy, Manuel Mendizabal, Marcelo Silva, Stefano Fagiuoli, Stuart K Roberts, Neşe Karadağ Soylu, Ramazan Idilman, Eric M Yoshida, Aldo J Montano-Loza, George N Dalekos, Ezequiel Ridruejo, Thomas D Schiano, Staffan Wahlin

Faculty, Staff and Student Publications

BACKGROUND AND AIMS: A few case reports of autoimmune hepatitis-like liver injury have been reported after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination. We evaluated clinical features, treatment response and outcomes of liver injury following SARS-CoV-2 vaccination in a large case series.

APPROACH AND RESULTS: We collected data from cases in 18 countries. The type of liver injury was assessed with the R-value. The study population was categorized according to features of immune-mediated hepatitis (positive autoantibodies and elevated immunoglobulin G levels) and corticosteroid therapy for the liver injury. We identified 87 patients (63%, female), median age 48 (range: 18-79) …

Tceal1 Loss-Of-Function Results In An X-Linked Dominant Neurodevelopmental Syndrome And Drives The Neurological Disease Trait In Xq222 Deletions, Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Devon Bonner, Ziv Gan-Or, Guy A Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R H Van Jaarsveld, A M A Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M Fatih, Dana Marafi, Jill A Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A Gibbs, Grace M Hobson, Jill V Hunter, Claudia M B Carvalho, Jennifer E Posey, Elena V Semina, James R Lupski

Faculty, Staff and Student Publications

An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that heterozygous deletions encompassing the smallest region of overlap (SRO) spanning six Xq22.2 genes (BEX3, RAB40A, TCEAL4, TCEAL3, TCEAL1, and MORF4L2) associate with an early-onset neurological disease trait (EONDT) consisting of hypotonia, intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. None of the genes within the SRO have been associated with monogenic disease in OMIM. Through local and international collaborations facilitated by GeneMatcher and Matchmaker Exchange, we have identified and herein report seven de novo variants involving …

Statistical Process Control To Monitor Use Of A Web-Based Autoplanning Tool, Hunter Mehrens, Raphael Douglas, Mary Gronberg, Kelly Nealon, Joy Zhang

Faculty, Staff and Student Publications

PURPOSE: To investigate the use of statistical process control (SPC) for quality assurance of an integrated web-based autoplanning tool, Radiation Planning Assistant (RPA).

METHODS: Automatically generated plans were downloaded and imported into two treatment planning systems (TPSs), RayStation and Eclipse, in which they were recalculated using fixed monitor units. The recalculated plans were then uploaded back to the RPA, and the mean dose differences for each contour between the original RPA and the TPSs plans were calculated. SPC was used to characterize the RPA plans in terms of two comparisons: RayStation TPS versus RPA and Eclipse TPS versus RPA for …