Medical Specialties Commons^™

Best Practices For Point Of Care Ultrasound: An Interdisciplinary Expert Consensus, Brandon Oto, Robert Baeten, Leon Chen, Puja Dalal, Ria Dancel, Steven Fox, Carl William Lange Iv, Cameron Baston, Paul Bornemann, Siddharth Dugar, Andrew Goldsmith, Meghan Kelly Herbst, James N Kirkpatrick, Abhilash Koratala, Michael J Lanspa, Viveta Lobo, Jason T Nomura, Aliaksei Pustavoitau, Mourad H Senussi, Vincent L Sorrell, Frances Mae West, Aarti Sarwal

Faculty, Staff and Students Publications

Despite the growing use of point of care ultrasound (POCUS) in contemporary medical practice and the existence of clinical guidelines addressing its specific applications, there remains a lack of standardization and agreement on optimal practices for several areas of POCUS use. The Society of Point of Care Ultrasound (SPOCUS) formed a working group in 2022 to establish a set of recommended best practices for POCUS, applicable to clinicians regardless of their training, specialty, resource setting, or scope of practice. Using a three-round modified Delphi process, a multi-disciplinary panel of 22 POCUS experts based in the United States reached consensus on …

Reproductive Factors And Their Association With Physical And Comprehensive Frailty In Middle-Aged And Older Women: A Large-Scale Population-Based Study, Wenting Hao, Qi Wang, Ruihong Yu, Shiva Raj Mishra, Salim S Virani, Nipun Shrestha, Chunying Fu, Dongshan Zhu

Faculty, Staff and Students Publications

Study question: Are women's reproductive factors associated with physical frailty and comprehensive frailty in middle-age and later life?

Summary answer: Early menarche at < 13 years, age at menopause < 45 years, surgical menopause, experiencing miscarriage and a shorter reproductive period of < 35 years were associated with increased odds of frailty, while having two or three children was related to decreased likelihood of frailty.

What is known already: Evidence has shown that women are frailer than men in all age groups and across different populations, although women have longer lifespans. Female-specific reproductive factors may be related to risk of frailty in women.

Study design size duration: A population-based cross-sectional study involved 189 898 women from the UK Biobank.

Participants/materials setting methods: Frailty phenotype and frailty index were used to assess physical frailty and comprehensive frailty (assessed using 38 health indicators for …

Steroid Receptor Coactivators In Treg And Th17 Cell Biology And Function, Yosi Gilad, Ortal Shimon, Sang Jun Han, David M Lonard, Bert W O'Malley

Faculty, Staff and Students Publications

Steroid receptor coactivators (SRCs) are master regulators of transcription that play key roles in human physiology and pathology. SRCs are particularly important for the regulation of the immune system with major roles in lymphocyte fate determination and function, macrophage activity, regulation of nuclear factor κB (NF-κB) transcriptional activity and other immune system biology. The three members of the p160 SRC family comprise a network of immune-regulatory proteins that can function independently or act in synergy with each other, and compensate for - or moderate - the activity of other SRCs. Recent evidence indicates that the SRCs are key participants in …

A Comprehensive Meta-Analysis Of Tissue Resident Memory T Cells And Their Roles In Shaping Immune Microenvironment And Patient Prognosis In Non-Small Cell Lung Cancer, Aidan Shen, Aliesha Garrett, Cheng-Chi Chao, Dongliang Liu, Chao Cheng, Zhaohui Wang, Chen Qian, Yangzhi Zhu, Junhua Mai, Chongming Jiang

Faculty, Staff and Students Publications

Tissue-resident memory T cells (TRM) are a specialized subset of long-lived memory T cells that reside in peripheral tissues. However, the impact of TRM-related immunosurveillance on the tumor-immune microenvironment (TIME) and tumor progression across various non-small-cell lung cancer (NSCLC) patient populations is yet to be elucidated. Our comprehensive analysis of multiple independent single-cell and bulk RNA-seq datasets of patient NSCLC samples generated reliable, unique TRM signatures, through which we inferred the abundance of TRM in NSCLC. We discovered that TRM abundance is consistently positively correlated with CD4+ T helper 1 cells, M1 macrophages, and resting dendritic cells in the TIME. …

Advances In The Clinical Application Of High-Throughput Proteomics, Miao Cui, Fei Deng, Mary L Disis, Chao Cheng, Lanjing Zhang

Faculty, Staff and Students Publications

High-throughput proteomics has become an exciting field and a potential frontier of modern medicine since the early 2000s. While significant progress has been made in the technical aspects of the field, translating proteomics to clinical applications has been challenging. This review summarizes recent advances in clinical applications of high-throughput proteomics and discusses the associated challenges, advantages, and future directions. We focus on research progress and clinical applications of high-throughput proteomics in breast cancer, bladder cancer, laryngeal squamous cell carcinoma, gastric cancer, colorectal cancer, and coronavirus disease 2019. The future application of high-throughput proteomics will face challenges such as varying protein …

Select Gut Microbiota Impede Rotavirus Vaccine Efficacy, Vu L Ngo, Yanling Wang, Yadong Wang, Zhenda Shi, Robert Britton, Jun Zou, Sasirekha Ramani, Baoming Jiang, Andrew T Gewirtz

Faculty, Staff and Students Publications

BACKGROUND & AIMS: The protection provided by rotavirus (RV) vaccines is highly heterogeneous among individuals. We hypothesized that microbiota composition might influence RV vaccine efficacy.

METHODS: First, we examined the potential of segmented filamentous bacteria (SFB) colonization to influence RV vaccine efficacy in mice. Next, we probed the influence of human microbiomes on RV vaccination via administering mice fecal microbial transplants (FMTs) from children with robust or minimal RV vaccine responsiveness. Post-FMT, mice were subjected to RV vaccination followed by RV challenge.

RESULTS: SFB colonization induced a phenotype that was reminiscent of RV vaccine failure (ie, failure to generate RV …

Mfgm-Enriched Whey Displays Antiviral Activity Against Common Pediatric Viruses, Evelien Kramer, Ketki Patil, Vassilis Triantis, Jan A H Bastiaans, Michela Mazzon, Sasirekha Ramani, Tim T Lambers

Faculty, Staff and Students Publications

BACKGROUND: Among the most common mucosal viral infections in infants are rotavirus, one of the main causes of severe gastroenteritis in infants and children up to 5 years, and respiratory syncytial virus (RSV), one of the leading causes of lower respiratory tract infections. Both human milk and bovine milk derived factors may provide protection against mucosal viral infections. More recently, a similar activity of milk derived proteins was suggested for SARS-CoV-2. The goal of the current study was to test antiviral activity of the bovine milkfat globule membrane (MFGM) against rotavirus, RSV and SARS-CoV-2 and to further characterize MFGM-enriched whey …

Lack Of Knowledge Of Antibiotic Risks Contributes To Primary Care Patients' Expectations Of Antibiotics For Common Symptoms, Lindsey A Laytner, Barbara W Trautner, Susan Nash, Roger Zoorob, Jennifer O Okoh, Eva Amenta, Kiara Olmeda, Juanita Salinas, Michael K Paasche-Orlow, Larissa Grigoryan

Faculty, Staff and Students Publications

Patient expectations of receiving antibiotics for common symptoms can trigger unnecessary use. We conducted a survey (n = 564) between January 2020 to June 2021 in public and private primary care clinics in Texas to study the prevalence and predictors of patients' antibiotic expectations for common symptoms/illnesses. We surveyed Black patients (33%) and Hispanic/Latine patients (47%), and over 93% expected to receive an antibiotic for at least 1 of the 5 pre-defined symptoms/illnesses. Public clinic patients were nearly twice as likely to expect antibiotics for sore throat, diarrhea, and cold/flu than private clinic patients. Lack of knowledge of potential risks …

A Woman With Bilateral Pheochromocytoma And Tuberous Sclerosis Complex, Maleeha Zahid, Shalini Koshy, Jawairia Shakil, Helmi S Khadra, Luan D Truong, Archana R Sadhu

Faculty, Staff and Students Publications

BACKGROUND/OBJECTIVE: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors. Here, we report an unusual case of synchronous PPGL in an asymptomatic patient with tuberous sclerosis complex (TSC).

CASE REPORT: A 49-year-old woman with a history of TSC and end-stage renal disease was referred for evaluation of bilateral adrenal and retroperitoneal masses. She denied chest pain, palpitations, headaches, or previous hypertensive crisis. The laboratory test results showed a plasma normetanephrine level of 20.20 nmol/L (normal range, 0.00-0.89 nmol/L) and plasma chromogranin A level Chromogranin A (CgA) levels of 1518 ng/mL (normal range, 0-103 ng/mL). The plasma metanephrine level was normal. After …

De Novo Missense Variants In Zbtb47 Are Associated With Developmental Delays, Hypotonia, Seizures, Gait Abnormalities, And Variable Movement Abnormalities, Scott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, Paul J Benke, Lisa Emrick, Kristen Fisher, Kimberly M Houck, Hongzheng Dai, Undiagnosed Diseases Network, Maria J Guillen Sacoto, William Craigen, Kimberly Glaser, David R Murdock, Luis Rohena, Karin E M Diderich, Hennie T Bruggenwirth, Brendan Lee, Carlos Bacino, Lindsay C Burrage, Jill A Rosenfeld

Faculty, Staff and Students Publications

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected …

Succinic Semialdehyde Dehydrogenase Deficiency: A Metabolic And Genomic Approach To Diagnosis, Kevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P Mackay, Kirt A Martin, Phillip L Pearl, K Michael Gibson, Theresa A Wilson, V Reid Sutton, Sarah H Elsea

Faculty, Staff and Students Publications

Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being overlooked as potentially causative, particularly in individuals with undifferentiated phenotypes. Consequently, many neurometabolic conditions, including those in the GABA (gamma-aminobutyric acid) catabolism pathway, are underdiagnosed. Succinic semialdehyde dehydrogenase deficiency (SSADHD, OMIM #271980) is a neurometabolic disorder in the GABA catabolism pathway. The disorder is due to bi-allelic pathogenic variants in

Blind To The Perils Of Pursuing Food: Behaviors Of Individuals With Smith-Magenis Syndrome, Citrine Elatrash, Jenna Shi, Theresa Wilson, Sarah H Elsea, Stephanie Sisley

Faculty, Staff and Students Publications

PURPOSE: Discrepancies exist between the need to lock food away and satiety scores in the Smith-Magenis syndrome (SMS) population. This study sought to uncover food-related behaviors within this unique group of individuals.

METHODS: Caregivers (

RESULTS: This study identified a global theme of "Blind to the perils while pursuing their goals," supported by 5 organizing themes: (1) Biology-impacting behaviors, (2) Need for personalized strategies, (3) Controlling food experiences, (4) Need for parents to orchestrate life, and (5) Surprising resourcefulness. Subthemes within these organizing themes highlighted that individuals with SMS have unique food-related behaviors and often fixate on certain types of …

Translational And Oncologic Significance Of Tertiary Lymphoid Structures In Pancreatic Adenocarcinoma, Zachary Gao, Joseph Azar, Huili Zhu, Sophia Williams-Perez, Sung Wook Kang, Celia Marginean, Mark P Rubinstein, Shalini Makawita, Hyun-Sung Lee, E Ramsay Camp

Faculty, Staff and Students Publications

Pancreatic adenocarcinoma (PDAC) is an aggressive tumor with poor survival and limited treatment options. PDAC resistance to immunotherapeutic strategies is multifactorial, but partially owed to an immunosuppressive tumor immune microenvironment (TiME). However, the PDAC TiME is heterogeneous and harbors favorable tumor-infiltrating lymphocyte (TIL) populations. Tertiary lymphoid structures (TLS) are organized aggregates of immune cells that develop within non-lymphoid tissue under chronic inflammation in multiple contexts, including cancers. Our current understanding of their role within the PDAC TiME remains limited; TLS are complex structures with multiple anatomic features such as location, density, and maturity that may impact clinical outcomes such as …

Childhood And Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With T(8;14) And Bcl2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge, Fouad El Dana, Sofia Alexandra Garces Narvaez, Nader K El-Mallawany, Jennifer E Agrusa, Zoann E Dreyer, Andrea N Marcogliese, Mohamed Tarek Elghetany, Jyotinder N Punia, Chi Young Ok, Keyur P Patel, Dolores H Lopez-Terrada, Kevin E Fisher, Choladda V Curry

Faculty, Staff and Students Publications

We present 2 diagnostically challenging cases of pediatric/adolescent relapsed/refractory aggressive mature B-cell non-Hodgkin lymphoma (B-NHL) within the spectrum of Burkitt lymphoma and diffuse large B-cell lymphoma and illustrate the different therapeutic regimens that are employed for pediatric and adult cancer centers. Both cases displayed varying-sized lymphoma cells with occasional single prominent nucleoli and heterogeneous BCL2 expression. Cytogenetics revealed complex karyotypes with t(8:14)(q24.2;q32) and IGH::MYC rearrangement by FISH. Next generation sequencing revealed deleterious TP53 and MYC mutations. We concluded that both could be diagnosed as “DLBCL-NOS with MYC rearrangement” using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World …

Predictive Analytics In Bronchopulmonary Dysplasia: Past, Present, And Future, Bryan G Mcomber, Alvaro G Moreira, Kelsey Kirkman, Sebastian Acosta, Craig Rusin, Binoy Shivanna

Faculty, Staff and Students Publications

Bronchopulmonary dysplasia (BPD) remains a significant complication of prematurity, impacting approximately 18,000 infants annually in the United States. Advances in neonatal care have not reduced BPD, and its management is challenged by the rising survival of extremely premature infants and the variability in clinical practices. Leveraging statistical and machine learning techniques, predictive analytics can enhance BPD management by utilizing large clinical datasets to predict individual patient outcomes. This review explores the foundations and applications of predictive analytics in the context of BPD, examining commonly used data sources, modeling techniques, and metrics for model evaluation. We also highlight bioinformatics' potential role …

Wall Motion Assessment By Feature Tracking In Pediatric Patients With Coronary Anomalies Undergoing Dobutamine Stress Cmr, Shagun Sachdeva, Silvana Molossi, Dana Reaves-O'Neal, Prakash Masand, Tam T Doan

Faculty, Staff and Students Publications

BACKGROUND: Left ventricular (LV) wall motion assessment is an important adjunct in addition to perfusion defects in assessing ischemic changes. This study aims to investigate the feasibility and utility of performing feature tracking (FT) in pediatric patients with coronary anomalies undergoing dobutamine stress CMR to assess wall motion abnormalities (WMA) and perfusion defects.

METHOD: This is a retrospective study where 10 patients with an inducible first-pass perfusion (FPP) defect and 10 without were selected. Global LV circumferential strain/strain rate (GCS/GCSR) was measured at rest and at peak stress (systole and diastole) using a commercially available feature tracking software. Peak GCS …

Long-Term Efficacy And Safety Of Cardiac Genome Editing For Catecholaminergic Polymorphic Ventricular Tachycardia, Oliver M Moore, Yuriana Aguilar-Sanchez, Satadru K Lahiri, Mohit M Hulsurkar, J Alberto Navarro-Garcia, Tarah A Word, Joshua A Keefe, Dean Barazi, Elda M Munivez, Charles T Moore, Vaidya Parthasarathy, Jaysón Davidson, William R Lagor, So Hyun Park, Gang Bao, Christina Y Miyake, Xander H T Wehrens

Faculty, Staff and Students Publications

INTRODUCTION: Heterozygous autosomal-dominant single nucleotide variants in RYR2 account for 60% of cases of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmia disorder associated with high mortality rates. CRISPR/Cas9-mediated genome editing is a promising therapeutic approach that can permanently cure the disease by removing the mutant RYR2 allele. However, the safety and long-term efficacy of this strategy have not been established in a relevant disease model.

AIM: The purpose of this study was to assess whether adeno-associated virus type-9 (AAV9)-mediated somatic genome editing could prevent ventricular arrhythmias by removal of the mutant allele in mice that are heterozygous for

METHODS …

Anomalous Aortic Origin Of A Coronary Artery In Pediatric Patients, Tam T Doan, Charles Puelz, Craig Rusin, Silvana Molossi

Faculty, Staff and Students Publications

PURPOSE OF REVIEW: We present a contemporary approach to risk assessment and management of patients with anomalous aortic origin of a coronary artery (AAOCA).

RECENT FINDINGS: Anomalous left coronary artery from the right aortic sinus (L-AAOCA) with interarterial course carries a high risk of sudden cardiac death (SCD); therefore, current guidelines recommend exercise restriction and surgical intervention. Recent data in intraseptal and juxtacommissural L-AAOCA showed inducible perfusion abnormalities, leading to consideration of surgical intervention. Anomalous right coronary artery from the left aortic sinus (R-AAOCA) carries a much lower risk and stress perfusion imaging is helpful in identifying patients with inducible …

Perspectives From Cystinosis: Access To Healthcare May Be A Confounding Factor For Variant Classification, Chen-Han Wilfred Wu, Alicja Tomaszewski, Louisa Stark, Fernando Scaglia, Ewa Elenberg, Fredrick R Schumaker

Faculty, Staff and Students Publications

Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular accumulation of cystine. We attempted to assess the currently poorly characterized prevalence of cystinosis by employing a population genetics methodology. However, we encountered a significant challenge due to genetic variations across different populations, and the consideration of potential disparities in access to healthcare made our results inconclusive. Pathogenic CTNS variants were identified in a representative global population cohort using The Human Gene Mutation Database (HGMD) …

Β2-Glycoprotein I Promotes The Clearance Of Circulating Mitochondria, Swapan Kumar Dasgupta, Jahnavi Gollamudi, Stefanie Rivera, Ross A Poche, Rolando E Rumbaut, Perumal Thiagarajan

Faculty, Staff and Students Publications

β2-glycoprotein I (β2-Gp1) is a cardiolipin-binding plasma glycoprotein. It is evolutionarily conserved from invertebrates, and cardiolipin-bound β2-Gp1 is a major target of antiphospholipid antibodies seen in autoimmune disorders. Cardiolipin is almost exclusively present in mitochondria, and mitochondria are present in circulating blood. We show that β2-Gp1 binds to cell-free mitochondria (CFM) in the circulation and promotes its phagocytosis by macrophages at physiological plasma concentrations. Exogenous CFM had a short circulation time of less than 10 minutes in mice. Following infusion of CFM, β2-Gp1-deficient mice had significantly higher levels of transfused mitochondria at 5 minutes (9.9 ± 6.4 pg/ml versus 4.0 …

Meta-Analysis Of Postoperative Myocardial Injury As A Predictor Of Mortality After Living Donor Liver Transplantation, Krzysztof Jankowski, Frank W Peacock, Michal Pruc, Teresa Malecka-Massalska, Lukasz Szarpak

Faculty, Staff and Students Publications

BACKGROUND: The purpose of this study was to perform a systematic review and meta-analysis to investigate postoperative myocardial injury, as expressed by the postoperative concentration of high-sensitivity cardiac troponin I (hs-cTnI) as a predictor of mortality among living donor liver transplantation (LDLT) patients.

METHODS: PubMed, Scopus, Embase and the Cochrane Library were searched through to September 1st 2022. The primary endpoint included in-hospital mortality. Secondary endpoints were 1-year mortality and re-transplantation occurrence. Estimates are expressed as risk ratios (RRs) and 95% confidence intervals (95% CIs). Heterogeneity was assessed with the I² test.

RESULTS: During the search, 2 studies were found …

Increasing Social Determinants Of Health Screening Rates Among Six Endocrinology Centers Across The United States: Results From The T1d Exchange Quality Improvement Collaborative, Ori Odugbesan, Trevon Wright, Nana-Hawa Yayah Jones, Selorm Dei-Tutu, Mary Pat Gallagher, Emily Dewit, Roberto E Izquierdo, Marisa Desimone, Nicole Rioles, Osagie Ebekozien

Faculty, Staff and Students Publications

Social determinants of health (SDOH) are strongly associated with outcomes for people with type 1 diabetes. Six centers in the T1D Exchange Quality Improvement Collaborative applied quality improvement principles to design iterative Plan-Do-Study-Act cycles to develop and expand interventions to improve SDOH screening rates. The interventions tested include staff training, a social risk index, an electronic health record patient-facing portal, partnerships with community organizations, and referrals to community resources. All centers were successful in improving SDOH screening rates, with individual site improvements ranging from 41 to 70% and overall screening across the six centers increasing from a baseline of 1% …

Effects And Plasma Proteomic Analysis Of Glp-1ra Versus Cpa/Ee, In Combination With Metformin, On Overweight Pcos Women: A Randomized Controlled Trial, Mingyu Liao, Xing Li, Hao Zhang, Ling Zhou, Liu Shi, Weixin Li, Rufei Shen, Guiliang Peng, Huan Zhao, Jiaqing Shao, Xiujie Wang, Zheng Sun, Hongting Zheng, Min Long

Faculty, Staff and Students Publications

PURPOSE: Polycystic ovary syndrome (PCOS) is characterized by reproductive dysfunctions and metabolic disorders. This study aims to compare the therapeutic effectiveness of glucagon-like peptide-1 receptor agonist (GLP-1RA) + Metformin (Met) versus cyproterone acetate/ethinylestradiol (CPA/EE) + Met in overweight PCOS women and identify potential proteomic biomarkers of disease risk in women with PCOS.

METHODS: In this prospective, open-label randomized controlled trial, we recruited 60 overweight PCOS women into two groups at a 1:1 ratio to receive CPA/EE (2 mg/day: 2 mg cyproterone acetate and 35-μg ethinylestradiol,) +Met (1500 mg/day) or GLP-1 RA (liraglutide, 1.2-1.8 mg/day) +Met (1500 mg/day) for 12 weeks. …

Early Administration Of Steroids In The Ambulance Setting: An Observational Design Trial (Easi-As-Odt), Jennifer N Fishe, Gerard Garvan, Andrew Bertrand, Shannon Burcham, Phyllis Hendry, Manish Shah, Kathryn Kothari, David W Ashby, Daniel Ostermeyer, Lauren Riney, Olga Semenova, Benjamin Abo, Benjamin Abes, Nichole Shimko, Emily Myers, Marshall Frank, Tim Turner, Mac Kemp, Kim Landry, Greg Roland, Kathryn V Blake

Faculty, Staff and Students Publications

BACKGROUND: In the emergency department (ED), prompt administration of systemic corticosteroids for pediatric asthma exacerbations decreases hospital admission rates. However, there is sparse evidence for whether earlier administration of systemic corticosteroids by emergency medical services (EMS) clinicians, prior to ED arrival, further improves pediatric asthma outcomes.

METHODS: Early Administration of Steroids in the Ambulance Setting: An Observational Design Trial is a multicenter, observational, nonrandomized stepped-wedge design study with seven participating EMS agencies who adopted an oral systemic corticosteroid (OCS) into their protocols for pediatric asthma treatment. Using univariate analyses and multivariable mixed-effects models, we compared hospital admission rates for pediatric …

Twelve Tips For Using The Understanding By Design® Curriculum Planning Framework, Alana D Newell, Cara A Foldes, Alison J Haddock, Nadia Ismail, Nancy P Moreno

Faculty, Staff and Students Publications

BACKGROUND: Health professions faculty engaged in curriculum planning or redesign can struggle with developing courses or programs that align desired learner outcomes, such as competencies to be applied in a clinical setting, with assessment and instruction.

AIMS: Our medical school implemented the Understanding by Design (UbD) framework to achieve alignment of outcomes, assessments and teaching during the renewal of our four-year curriculum. This article shares our strategies and practices for implementing UbD with teams of faculty curriculum developers.

DESCRIPTION: The UbD framework is a 'backward' approach to curriculum development that begins by identifying learner outcomes, followed by the development of …

The 6 Degrees Of Curriculum Integration In Medical Education In The United States, Julie Youm, Jennifer Christner, Kevin Hittle, Paul Ko, Cinda Stone, Angela D Blood, Samara Ginzburg

Faculty, Staff and Students Publications

Despite explicit expectations and accreditation requirements for integrated curriculum, there needs to be more clarity around an accepted common definition, best practices for implementation, and criteria for successful curriculum integration. To address the lack of consensus surrounding integration, we reviewed the literature and herein propose a definition for curriculum integration for the medical education audience. We further believe that medical education is ready to move beyond “horizontal” (1-dimensional) and “vertical” (2-dimensional) integration and propose a model of “6 degrees of curriculum integration” to expand the 2-dimensional concept for future designs of medical education programs and best prepare learners to meet …

Dolutegravir Induces Folr1 Expression During Brain Organoid Development, Carlo Donato Caiaffa, Gabriel Tukeman, Christian Zevallos Delgado, Yogeshwari S Ambekar, Taye T Mekonnen, Manmohan Singh, Victoria Rodriguez, Emily Ricco, Daniel Kraushaar, Salavat R Aglyamov, Giuliano Scarcelli, Kirill V Larin, Richard H Finnell, Robert M Cabrera

Faculty, Staff and Students Publications

During the first month of pregnancy, the brain and spinal cord are formed through a process called neurulation. However, this process can be altered by low serum levels of folic acid, environmental factors, or genetic predispositions. In 2018, a surveillance study in Botswana, a country with a high incidence of human immunodeficiency virus (HIV) and lacking mandatory food folate fortification programs, found that newborns whose mothers were taking dolutegravir (DTG) during the first trimester of pregnancy had an increased risk of neural tube defects (NTDs). As a result, the World Health Organization and the U.S. Food and Drug Administration have …

Ibrutinib-Associated Cutaneous Mucormycosis Due To An Apophysomyces Species: Report Of A Case And Review Of The Literature, Trung Minh Nguyen, Eva Amenta, Lynne Chapman, Sarvari Yellapragada, Bhuvaneswari Krishnan, Jonathan Lim, Richard J Hamill

Faculty, Staff and Students Publications

The use of ibrutinib, a Bruton tyrosine kinase inhibitor, has been associated with invasive fungal infections (IFIs). We describe a case of Apophysomyces infection associated with long-term use of ibrutinib for the treatment of chronic lymphocytic leukemia as well as perform a literature review of Mucormycosis infections in patients on ibrutinib. Our review found that the onset of IFI can occur within months to years of starting tyrosine kinase inhibitors. These reports provide a more complete picture of the risk of IFI while patients are on ibrutinib. Our case also demonstrates the utility of molecular techniques in the diagnosis of …

Traf4-Mediated Nonproteolytic Ubiquitination Of Androgen Receptor Promotes Castration-Resistant Prostate Cancer, Yosi Gilad, Ortal Shimon, Sang Jun Han, David M Lonard, Bert W O'Malley

Faculty, Staff and Students Publications

Steroid receptor coactivators (SRCs) are master regulators of transcription that play key roles in human physiology and pathology. SRCs are particularly important for the regulation of the immune system with major roles in lymphocyte fate determination and function, macrophage activity, regulation of nuclear factor κB (NF-κB) transcriptional activity and other immune system biology. The three members of the p160 SRC family comprise a network of immune-regulatory proteins that can function independently or act in synergy with each other, and compensate for - or moderate - the activity of other SRCs. Recent evidence indicates that the SRCs are key participants in …

Improved Sequence Mapping Using A Complete Reference Genome And Lift-Over, Nae-Chyun Chen, Luis F Paulin, Fritz J Sedlazeck, Sergey Koren, Adam M Phillippy, Ben Langmead

Faculty, Staff and Students Publications

Complete, telomere-to-telomere genome assemblies promise improved analyses and the discovery of new variants, but many essential genomic resources remain associated with older reference genomes. Thus, there is a need to translate genomic features and read alignments between references. Here we describe a new method called levioSAM2 that accounts for reference changes and performs fast and accurate lift-over between assemblies using a whole-genome map. In addition to enabling the use of multiple references, we demonstrate that aligning reads to a high-quality reference (e.g. T2T-CHM13) and lifting to an older reference (e.g. GRCh38) actually improves the accuracy of the resulting variant calls …