Medical Specialties Commons^™

Transfusion Reactions Associated With Covid-19 Convalescent Plasma In Outpatient Clinical Trials, Giselle S Mosnaim, Bela Patel, Shweta Anjan, Barry R Meisenberg, Adam C Levine, Christi E Marshall, Anusha Yarava, Aarthi G Shenoy, Sonya L Heath, Judith S Currier, Yuriko Fukuta, Janis E Blair, Emily S Spivak, Joann R Petrini, Patrick B Broderick, William Rausch, Marieelena Cordisco, Jean Hammel, Benjamin Greenblatt, Valerie C Cluzet, Daniel Cruser, Kevin Oei, Matthew Abinante, Laura L Hammitt, Catherine G Sutcliffe, Donald N Forthal, Martin S Zand, Edward R Cachay, Seble G Kassaye, Malathi Ram, Ying Wang, Piyali Das, Karen Lane, Nichol A Mcbee, Amy L Gawad, Nicky Karlen, Daniel E Ford, Oliver Laeyendecker, Andrew Pekosz, Sabra L Klein, Stephan Ehrhardt, Bryan Lau, Sheriza N Baksh, David M Shade, Arturo Casadevall, Daniel F Hanley, Jiangda Ou, Thomas J Gniadek, Alyssa Ziman, Shmuel Shoham, Kelly A Gebo, Evan M Bloch, Aaron A R Tobian, David J Sullivan, Jonathan M Gerber

Faculty, Staff and Students Publications

BACKGROUND: COVID-19 convalescent plasma (CCP) is an important therapeutic option for outpatients at high risk of hospitalization from SARS-CoV-2 infection. We assessed the safety of outpatient CCP transfusions administered during clinical trials.

STUDY DESIGN AND METHODS: We analyzed data pertaining to transfusion-related reactions from two randomized controlled trials in the U.S. that evaluated the efficacy of CCP versus control plasma in various ambulatory settings. Multivariable logistic regression was used to assess whether CCP was associated with transfusion reactions, after adjusting for potential confounders.

RESULTS: The combined study reported 79/1351 (5.9%) adverse events during the transfusion visit, with the majority 62/1351 …

Maternal Metabolism Influences Neural Tube Closure

Faculty, Staff and Students Publications

Changes in maternal nutrient availability due to diet or disease significantly increase the risk of neural tube defects (NTDs). Because the incidence of metabolic disease continues to rise, it is urgent that we better understand how altered maternal nutrient levels can influence embryonic neural tube development. Furthermore, primary neurulation occurs before placental function during a period of histiotrophic nutrient exchange. In this review we detail how maternal metabolites are transported by the yolk sac to the developing embryo. We discuss recent advances in understanding how altered maternal levels of essential nutrients disrupt development of the neuroepithelium, and identify points of …

Myths And Methodologies: Cardiopulmonary Exercise Testing For Surgical Risk Stratification In Patients With An Abdominal Aortic Aneurysm; Balancing Risk Over Benefit, Michael H Lewis, Ahmed Abd Aldayem, Chistopher P Twine, Wael Awad, Matti Jubouri, Idhrees Mohammed, Carlos A Mestres, Edward P Chen, Joseph S Coselli, Ian M Williams, Mohamad Bashir, International Academic Surgical Consortium (Thalamus)

Faculty, Staff and Students Publications

The extent to which patients with an abdominal aortic aneurysm (AAA) should exercise remains unclear, given theoretical concerns over the perceived risk of blood pressure-induced rupture, which is often catastrophic. This is especially pertinent during cardiopulmonary exercise testing, when patients are required to perform incremental exercise to symptom-limited exhaustion for the determination of cardiorespiratory fitness. This multimodal metric is being used increasingly as a complementary diagnostic tool to inform risk stratification and subsequent management of patients undergoing AAA surgery. In this review, we bring together a multidisciplinary group of physiologists, exercise scientists, anaesthetists, radiologists and surgeons to challenge the enduring …

The Complete Sequence Of A Human Y Chromosome, Savannah J Hoyt, Dylan J Taylor, Nicolas Altemose, Paul W Hook, Sergey Koren, Mikko Rautiainen, Ivan A Alexandrov, Jamie Allen, Mobin Asri, Andrey V Bzikadze, Nae-Chyun Chen, Chen-Shan Chin, Mark Diekhans, Paul Flicek, Giulio Formenti, Arkarachai Fungtammasan, Carlos Garcia Giron, Erik Garrison, Ariel Gershman, Jennifer L Gerton, Patrick G S Grady, Andrea Guarracino, Leanne Haggerty, Reza Halabian, Nancy F Hansen, Robert Harris, Gabrielle A Hartley, William T Harvey, Marina Haukness, Jakob Heinz, Thibaut Hourlier, Robert M Hubley, Sarah E Hunt, Stephen Hwang, Miten Jain, Rupesh K Kesharwani, Alexandra P Lewis, Heng Li, Glennis A Logsdon, Julian K Lucas, Wojciech Makalowski, Christopher Markovic, Fergal J Martin, Ann M Mc Cartney, Rajiv C Mccoy, Jennifer Mcdaniel, Brandy M Mcnulty, Paul Medvedev, Alla Mikheenko, Katherine M Munson, Terence D Murphy, Hugh E Olsen, Nathan D Olson, Luis F Paulin, David Porubsky, Tamara Potapova, Fedor Ryabov, Steven L Salzberg, Michael E G Sauria, Fritz J Sedlazeck, Kishwar Shafin, Valery A Shepelev, Alaina Shumate, Jessica M Storer, Likhitha Surapaneni, Angela M Taravella Oill, Françoise Thibaud-Nissen, Winston Timp, Marta Tomaszkiewicz, Mitchell R Vollger, Brian P Walenz, Allison C Watwood, Matthias H Weissensteiner, Aaron M Wenger, Melissa A Wilson, Samantha Zarate, Yiming Zhu, Justin M Zook, Evan E Eichler, Rachel J O'Neill, Michael C Schatz, Karen H Miga, Kateryna D Makova, Adam M Phillippy

Faculty, Staff and Students Publications

The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure including long palindromes, tandem repeats, and segmental duplications1–3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029 base pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the …

Loss Of The Maternal Effect Gene Nlrp2 Alters The Transcriptome Of Ovulated Mouse Oocytes And Impacts Expression Of Histone Demethylase Kdm1b, Sangeetha Mahadevan, Eleni Theodora Nasiotis, Li Su, Zhandong Liu, Ying-Wooi Wan, Ignatia B Van Den Veyver

Faculty, Staff and Students Publications

The subcortical maternal complex (SCMC) is a multiprotein complex in oocytes and preimplantation embryos that is encoded by maternal effect genes. The SCMC is essential for zygote-to-embryo transition, early embryogenesis, and critical zygotic cellular processes, including spindle positioning and symmetric division. Maternal deletion of Nlrp2, which encodes an SCMC protein, results in increased early embryonic loss and abnormal DNA methylation in embryos. We performed RNA sequencing on pools of meiosis II (MII) oocytes from wild-type and Nlrp2-null female mice that were isolated from cumulus-oocyte complexes (COCs) after ovarian stimulation. Using a mouse reference genome-based analysis, we found 231 …

Screening People On Standing Balance With Romberg Testing And Walking Balance With Tandem Walking

Faculty, Staff and Students Publications

The goal of this protocol is to inform readers about the exact procedures to use to perform two screening tests for vestibular disorders: tandem walking (TW) with eyes closed, also known as heel-toe walking, and the Clinical Test of Sensory Integration and Balance (CTSIB), which is also known as the modified Romberg. The study describes the steps for performing each test and each of the three CTSIB subtests so that the reader will be able to replicate the test conditions for use in the clinic, in the clinical laboratory, or in any other situation needing valid and reliable screening for …

Unexpected Drug-Induced Liver Injury Associated With Menofit: A Synbiotic Menopause Supplement

Faculty, Staff and Students Publications

MenoFit is a widely available over-the-counter synbiotic supplement, which is marketed for use in relieving menopausal symptoms. So far, there is no published data on liver injury because of its use. We present the first reported case of MenoFit-induced liver injury in a patient who presented with 1 week of jaundice and abnormal liver biochemical tests in the absence of other risk factors and negative comprehensive workup for known etiologies of liver disease.

Automated Prediction Of Cardiorespiratory Deterioration In Patients With Single-Ventricle Parallel Circulation: A Multicenter Validation Study, Eric Vu, Carly Scahill, Brian Fonseca, Cindy Barrett, Janet Simsic, Andrew R Yates, Brenna Klepczynski, William J Gaynor, Daniel J Penny

Faculty, Staff and Students Publications

OBJECTIVES: Patients with single-ventricle physiology have a significant risk of cardiorespiratory deterioration between their first- and second-stage palliation surgeries. Detection of deterioration episodes may allow for early intervention and improved outcomes.

METHODS: A prospective study was executed at Nationwide Children's Hospital, Children's Hospital of Philadelphia, and Children's Hospital Colorado to collect physiologic data of subjects with single ventricle physiology during all hospitalizations between neonatal palliation and II surgeries using the Sickbay software platform (Medical Informatics Corp). Timing of cardiorespiratory deterioration events was captured via chart review. The predictive algorithm previously developed and validated at Texas Children's Hospital was applied to …

The Reviewer Academy Of The Society Of Critical Care Medicine: Key Principles And Strategic Plan, Jan Hau Lee, Heather Meissen, Brenda M Morrow, Lama Nazer, Richard D Branson, Kirby P Mayer, Natalie Napolitano, Meghan B Lane-Fall, Andrea Sikora, Preeti R John, R Phillip Dellinger, Margaret Parker, Andrew Argent, Adjoa Boateng, Thomas P Green, Sapna R Kudchadkar, David M Maslove, Megan A Rech, Lauren R Sorce, Robert C Tasker, Timothy G Buchman, Paul A Checchia

Faculty, Staff and Students Publications

The Society of Critical Care Medicine (SCCM) Reviewer Academy seeks to train and establish a community of trusted, reliable, and skilled peer reviewers with diverse backgrounds and interests to promote high-quality reviews for each of the SCCM journals. Goals of the Academy include building accessible resources to highlight qualities of excellent manuscript reviews; educating and mentoring a diverse group of healthcare professionals; and establishing and upholding standards for insightful and informative reviews. This manuscript will map the mission of the Reviewer Academy with a succinct summary of the importance of peer review, process of reviewing a manuscript, and the expected …

Differences In Hyperandrogenism Related To Early Detection Of Non-Classical Congenital Adrenal Hyperplasia On Second Newborn Screen, Christina M Koppin, Nicole R Fraga, V Reid Sutton, Lefkothea P Karaviti, Gagandeep Bhullar, Mimi S Kim

Faculty, Staff and Students Publications

Screening for congenital adrenal hyperplasia (CAH) remains heterogenous across geographies—we sought to determine the proportion of non-classical CAH (NCAH) detection by one vs. two newborn screens (NBS) in two U.S. regions. Data were collected at tertiary centers in Houston (HOU) and Los Angeles (LA) on 35 patients with NCAH, comparing patients identified via the NBS vs. during childhood, 17-hydroxyprogesterone (17-OHP) levels, genotype, and phenotype. The NBS filter-paper 17-OHP levels and daily cutoffs were recorded on initial and second screens. In all, 53% of patients with NCAH in the HOU cohort were identified as infants via the second NBS. Patients identified …

A Defect In Mitochondrial Fatty Acid Synthesis Impairs Iron Metabolism And Causes Elevated Ceramide Levels, Paul C Marcogliese, Zhongyuan Zuo, Rishi V Shridharan, Jun Hyoung Park, Undiagnosed Diseases Networ, Guang Lin, Ming Ge, Gali Heimer, Jennefer N Kohler, Matthew T Wheeler, Benny A Kaipparettu, Akhilesh Pandey, Hugo J Bellen

Faculty, Staff and Students Publications

In most eukaryotic cells, fatty acid synthesis (FAS) occurs in the cytoplasm and in mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular lipidome is not well defined. Here we show that loss of function of Drosophila mitochondrial enoyl coenzyme A reductase (Mecr), which is the enzyme required for the last step of mtFAS, causes lethality, while neuronal loss of Mecr leads to progressive neurodegeneration. We observe a defect in Fe-S cluster biogenesis and increased iron levels in flies lacking mecr, leading to elevated ceramide levels. Reducing the levels of either iron or ceramide suppresses the neurodegenerative …

Novel Lss Variants In Alopecia And Intellectual Disability Syndrome: New Case Report And Clinical Spectrum Of Lss-Related Rare Disease Traits, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Daniel G Calame, Jennifer E Posey, James R Lupski, Maha S Zaki

Faculty, Staff and Students Publications

Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and alopecia-intellectual disability syndrome type 4 (APMR4). We performed trio research exome sequencing on a family with a four-year-old male with global developmental delay, epilepsy and striking alopecia, and identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variant alleles. Rare features associated with APMR4 such as cryptorchidism, micropenis, mild cortical brain atrophy and thin corpus callosum were detected. Previously unreported APMR4 findings including cerebellar involvement in the form of unsteady …

Early Initiation Of B-Vitamin Supplementation May Reduce Symptoms And Explain Intrafamilial Variability: Insights From Two Sibling Pairs From The Tango2 Natural History Study, Samuel J Mackenzie, Mahshid S Azamian, Daryl A Scott, Andres Hernandez-Garcia, Seema R Lalani

Faculty, Staff and Students Publications

TANGO2-deficiency disorder (TDD) is an autosomal recessive condition arising from pathogenic biallelic variants in the TANGO2 gene. TDD is characterized by symptoms typically beginning in late infancy including delayed developmental milestones, cognitive impairment, dysarthria, expressive language deficits, and gait abnormalities. There is wide phenotypic variability where some are severely affected while others have mild symptoms. This variability has been documented even among sibling pairs who share the same genotype, but reasons for this variability have not been well understood. Emerging data suggest a potential link between B-complex or multivitamin supplementation and decreased metabolic crises in TDD. In this report, we …

Phenoscore Quantifies Phenotypic Variation For Rare Genetic Diseases By Combining Facial Analysis With Other Clinical Features Using A Machine-Learning Framework, Lia Goltstein, Jeroen Van Reeuwijk, Nicole De Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery Den Hoed, Elke De Boer, Jet Coenen-Van Der Spek, Sandra Jansen, Bregje W Van Bon, Noraly Jonis, Charlotte W Ockeloen, Anneke T Vulto-Van Silfhout, Tjitske Kleefstra, David A Koolen, Philippe M Campeau, Elizabeth E Palmer, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J Van Der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J Van Gerven, Lisenka E L M Vissers, Bert B A De Vries

Faculty, Staff and Students Publications

Several molecular and phenotypic algorithms exist that establish genotype-phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore's ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants …

Association Between Right Heart Catheterization Hemodynamics And Glycosylated Hemoglobin Levels In Adults With Heart Failure With Reduced Ejection Fraction, Zeyad Elharabi, Daniel Davis, Mostafa Abohelwa, Ozman Ochoa, Alison Tran, Kenneth Nugent, David Paniagua, Erwin Argueta-Sosa

Faculty, Staff and Students Publications

UNLABELLED: This study hypothesized that elevated glycosylated hemoglobin (HbA1c) levels are associated with abnormal right heart catheterization (RHC) hemodynamic parameters in patients with heart failure with reduced ejection fraction (HFrEF) and no prior diagnosis of diabetes.

METHODS: Retrospective cohort study of adult patients with HFrEF and no prior diagnosis of diabetes who underwent RHC and had HbA1c levels measured 30 days before or after the RHC. This study excluded patients who had received blood transfusions within 90 days prior to HbA1c measurement and patients with known diabetes. Univariate and multivariate regression analyses adjusted for age, sex, and BMI were used …

Characterization And Quantification Of Adeno-Associated Virus Capsid-Loading States By Multi-Wavelength Analytical Ultracentrifugation With Ultrascan, Zhe Qu, Lauren Tomlinson, John Forsey, Viviana Gradinaru, Kazuhiro Oka, Borries Demeler

Faculty, Staff and Students Publications

Aim:

We present multi-wavelength (MW) analytical ultracentrifugation (AUC) methods offering superior accuracy for adeno-associated virus characterization and quantification.

Methods:

Experimental design guidelines are presented for MW sedimentation velocity and analytical buoyant density equilibrium AUC.

Results:

Our results were compared with dual-wavelength AUC, transmission electron microscopy and mass photometry. In contrast to dual-wavelength AUC, MW-AUC correctly quantifies adeno-associated virus capsid ratios and identifies contaminants. In contrast to transmission electron microscopy, partially filled capsids can also be detected and quantified. In contrast to mass photometry, first-principle results are obtained.

Conclusion:

Our study demonstrates the improved information provided by MW-AUC, highlighting the utility …

Immune Infiltration In Tumor And Adjacent Non-Neoplastic Regions Codetermines Patient Clinical Outcomes In Early-Stage Lung Cancer, Xinan Wang, Chongming Jiang, Yanhong Liu, Ivan Gorlov, Olga Gorlova, John Iafrate, Michael Lanuti, David C Christiani, Christopher I Amos

Faculty, Staff and Students Publications

INTRODUCTION: In recent years, the proportion of patients with NSCLC diagnosed at an early stage has increased continuously.

METHODS: In this study, we analyzed samples and data collected from 119 samples from 67 early stage patients with NSCLC, including 52 pairs of tumor and adjacent non-neoplastic samples, and performed RNA-sequencing analysis with high sequencing depth.

RESULTS: We found that immune-related genes were highly enriched among the differentially expressed genes and observed significantly higher inferred immune infiltration levels in adjacent non-neoplastic samples than in tumor samples. In survival analysis, the infiltration of certain immune cell types in tumor, but not adjacent …

A Recorder/Time Coach Decreases Time Errors During Neonatal Resuscitation: A Randomized, Simulation-Based Clinical Trial, Regine M Fortunov, Nathan C Sundgren

Faculty, Staff and Students Publications

AIM: To evaluate the effects of a hands-off recorder/time coach versus an additional hands-on healthcare provider on Neonatal Resuscitation Program (NRP) algorithm compliance and team member workload in neonatal resuscitations.

METHODS: Two interventions were studied using a 2 × 2 factorial design: an additional hands-on team member and the presence of a designated, hands-off recorder/time coach. The recorder/time coach documented interventions and delivered pre-specified prompts at defined points during the resuscitation. The primary outcome was cumulative time error. Secondary outcomes were time to first dose of IV epinephrine, overall team performance as assessed by the Neonatal Resuscitation Performance Evaluation (NRPE) …

From Pre-Copd To Copd: A Simple, Low Cost And Easy To Implement (Slim) Risk Calculator, Peter J Castaldi, Bartolome R Celli, Yohannes Tesfaigzi

Faculty, Staff and Students Publications

BACKGROUND: The lifetime risk of developing clinical COPD among smokers ranges from 13% to 22%. Identifying at-risk individuals who will develop overt disease in a reasonable timeframe may allow for early intervention. We hypothesised that readily available clinical and physiological variables could help identify ever-smokers at higher risk of developing chronic airflow limitation (CAL).

METHODS: Among 2273 Lovelace Smokers' Cohort (LSC) participants, we included 677 (mean age 54 years) with normal spirometry at baseline and a minimum of three spirometries, each 1 year apart. Repeated spirometric measurements were used to determine incident CAL. Using logistic regression, demographics, anthropometrics, smoking history, …

High Prevalence Of Frailty In Patients With Adrenal Adenomas And Adrenocortical Hormone Excess: A Cross-Sectional Multi-Centre Study With Prospective Enrolment, Karthik Thangamuthu, Shobana Athimulam, Danae A Delivanis, Dimitra A Baikousi, Rohit Nathani, Catherine D Zhang, Natalia Genere, Zara Salman, Adina F Turcu, Urszula Ambroziak, Raul G Garcia, Sara J Achenbach, Elizabeth J Atkinson, Sumitabh Singh, Nathan K Lebrasseur, Darko Kastelan, Irina Bancos

Faculty, Staff and Students Publications

Objective: Frailty, characterized by multi-system decline, increases vulnerability to adverse health outcomes and can be measured using Frailty Index (FI). We aimed to assess the prevalence of frailty in patients with adrenal disorders (based on hormonal sub-type) and examine association between FI and performance-based measures of physical function.

Design: Multi-centre, cross-sectional study (March 2019-August 2022).

Methods: Adult patients with adrenal disorders (non-functioning adrenal adenomas [NFA], mild autonomous cortisol secretion [MACS], Cushing syndrome [CS], primary aldosteronism [PA]) and referent subjects without adrenal disorders completed a questionnaire encompassing 47 health variables (comorbidities, symptoms, daily living activities). FI was calculated as the average …

Loss Of Growth Differentiation Factor 15 Exacerbates Lung Injury In Neonatal Mice, Weiwu Jiang, Lihua Wang, Xiaoyu Dong, Bhagavatula Moorthy, Eniko Sajti, Krithika Lingappan

Faculty, Staff and Students Publications

Growth differentiation factor 15 (GDF15) is a divergent member of the transforming growth factor-β (TGF-β) superfamily, and its expression increases under various stress conditions, including inflammation, hyperoxia, and senescence. GDF15 expression is increased in neonatal murine bronchopulmonary dysplasia (BPD) models, and GDF15 loss exacerbates oxidative stress and decreases cellular viability in vitro. Our overall hypothesis is that the loss of GDF15 will exacerbate hyperoxic lung injury in the neonatal lung in vivo. We exposed neonatal

The Novel Salt-M Score Predicts 1-Year Post-Transplant Mortality In Patients With Severe Acute-On-Chronic Liver Failure, Sophie-Caroline Sacleux, Saro Khemichian, Lance L Stein, Kirti Shetty, Christina C Lindenmeyer, Justin R Boike, Douglas A Simonetto, Robert S Rahimi, Prasun K Jalal, Manhal Izzy, Michael S Kriss, Gene Y Im, Ming V Lin, Janice H Jou, Brett E Fortune, George Cholankeril, Alexander Kuo, Nadim Mahmud, Fasiha Kanwal, Faouzi Saliba, Vinay Sundaram, Thierry Artzner, Rajiv Jalan, Multi-Organ Dysfunction And Evaluation For Liver Transplantation (Model) Consortium

Faculty, Staff and Students Publications

Background & aims: Twenty-eight-day mortality ranges from 30-90% in patients with acute-on-chronic liver failure grades 2/3 (severe ACLF). Though liver transplantation (LT) has demonstrated a survival benefit, the scarcity of donor organs and uncertainty regarding post-LT mortality among patients with severe ACLF may cause hesitancy. We developed and externally validated a model to predict 1-year post-LT mortality in severe ACLF, called the Sundaram ACLF-LT-Mortality (SALT-M) score, and estimated the median length of stay (LoS) after LT (ACLF-LT-LoS).

Methods: In 15 LT centers in the US, we retrospectively identified a cohort of patients with severe ACLF transplanted between 2014-2019, followed up …

Children’S Oncology Group’S 2023 Blueprint For Research: Epidemiology, Jenny N Poynter, Logan G Spector

Faculty, Staff and Students Publications

The Children's Oncology Group (COG) Epidemiology Committee has a primary focus on better understanding the etiologies of childhood cancers. Over the past 10 years, the committee has leveraged the Childhood Cancer Research Network, and now more recently Project:EveryChild (PEC), to conduct epidemiologic assessments of various childhood cancers, including osteosarcoma, neuroblastoma, germ cell tumors, Ewing sarcoma, rhabdomyosarcoma, and Langerhans cell histiocytosis. More recent studies have utilized questionnaire data collected as part of PEC to focus on specific characteristics and/or features, including the presence of congenital disorders and the availability of stored cord blood. Members of the COG Epidemiology Committee have also …

Risk And Accuracy Of Outpatient-Identified Hypoxaemia For Death Among Suspected Child Pneumonia Cases In Rural Bangladesh: A Multifacility Prospective Cohort Study, Asmd Ashraful Islam, Holly B Schuh, Carina King, Shubhada Hooli, Mohammad Abdul Quaiyum, Amy Sarah Ginsburg, William Checkley, Abdullah H Baqui, Tim Colbourn

Faculty, Staff and Students Publications

BACKGROUND: Hypoxaemic pneumonia mortality risk in low-income and middle-income countries is high in children who have been hospitalised, but unknown among outpatient children. We sought to establish the outpatient burden, mortality risk, and prognostic accuracy of death from hypoxaemia in children with suspected pneumonia in Bangladesh.

METHODS: We conducted a prospective community-based cohort study encompassing three upazila (subdistrict) health complex catchment areas in Sylhet, Bangladesh. Children aged 3-35 months participating in a community surveillance programme and presenting to one of three upazila health complex Integrated Management of Childhood Illness (IMCI) outpatient clinics with an acute illness and signs of difficult …

Information-Seeking Preferences In Diverse Patients Receiving A Genetic Testing Result In The Clinical Sequencing Evidence-Generating Research (Cser) Study, Sarah Scollon, Shannon Rego, Tiffany Yip, Hannah Hoban, Kate M Foreman, Whitley Kelley, Candice Finnila, Jonathan Berg, Priyanka Murali, Katherine E Bonini, Lisa J Martin, Adam Hott

Faculty, Staff and Students Publications

Purpose: Accurate and understandable information after genetic testing is critical for patients, family members, and professionals alike.

Methods: As part of a cross-site study from the Clinical Sequencing Evidence-Generating Research consortium, we investigated the information-seeking practices among patients and family members at 5 to 7 months after genetic testing results disclosure, assessing the perceived utility of a variety of information sources, such as family and friends, health care providers, support groups, and the internet.

Results: We found that individuals placed a high value on information obtained from genetics professionals and health care workers, independent of genetic testing result case classifications …

Robot-Assisted Resection Of Tricuspid Valve Papillary Fibroelastoma, Kenneth K Liao

Faculty, Staff and Students Publications

We report 3 cases of papillary fibroelastoma of the tricuspid valve. Two of them manifested with atypical symptoms of chest pressure and chest pain. Robot-assisted resection was performed to remove the mass while preserving the native valve. All patients recovered well. The 2 symptomatic patients experienced complete symptom resolution. We demonstrate the safety and feasibility of robotic resection in treating tricuspid valve papillary fibroelastoma.

New Records Of Ornithodoros Turicata (Ixodida: Argasidae) In Rural And Urban Sites In The Mexican States Of Aguascalientes And Zacatecas Indicate The Potential For Tick-Borne Relapsing Fever, Alexander R Kneubehl, Aparna Krishnavajhala, Michael W Curtis, Alejandro Ponce-Mendoza, Paulina Estrada-De Los Santos, Job E Lopez, J Antonio Ibarra

Faculty, Staff and Students Publications

Soft ticks from the Ornithodoros genus are vectors of relapsing fever (RF) spirochetes around the world. In Mexico, they were originally described in the 19th century. However, few recent surveillance studies have been conducted in Mexico, and regions where RF spirochetes circulate remain vague. Here, the presence of soft ticks in populated areas was assessed in two sites from the Mexican states of Aguascalientes and Zacatecas. Argasidae ticks were collected, identified by morphology and mitochondrial 16S rDNA gene sequencing, and tested for RF borreliae. The specimens in both sites were identified as Ornithodoros turicata but no RF spirochetes were detected. …

Factors Influencing Prescribing The First Add-On Disease-Modifying Antirheumatic Drugs In Patients Initiating Methotrexate For Rheumatoid Arthritis, Hua Chen, Michael L Johnson, Rajender R Aparasu

Faculty, Staff and Students Publications

BACKGROUND: Advances in Disease-Modifying Antirheumatic Drugs (DMARDs) have expanded the treatment landscape for Rheumatoid Arthritis (RA). Guidelines recommend adding either conventional synthetic (cs), biologic (b), or targeted synthetic (ts) DMARDs to methotrexate (MTX) for managing RA. Limited evidence exists regarding the factors that contribute to adding a DMARD agent to the MTX regimen. This study examined the factors associated with adding the first DMARD in RA patients initiating MTX.

METHODS: This retrospective cohort study utilized the MarketScan data (2012-2014) involving adults (aged ≥18) with RA initiating an MTX (index date) between Jul 1, 2012 and Dec 30, 2013, and with …

Treatment Of Low Back Pain Elicited By Middle Cluneal Neuralgia: Case Report And Literature Review Of Interventional Treatments, Christian Vangeison, Andrea M Trescot, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Background: Cluneal neuralgia is increasingly becoming recognized as an etiology of low back pain. The majority of the literature on cluneal nerve interventions describes modalities targeting the superior cluneal nerves with little emphasis on the middle cluneal nerves.

Case report: A 21-year-old woman with a medical history of congenital myelomeningocele with tethered cord at L5-S1, status post 3 decompressive releases, presented to the clinic with chronic low back pain and associated sacroiliac paresthesia. Over 11 months, she underwent 7 ultrasound-guided bilateral middle cluneal nerve blocks, without corticosteroid, resulting in significant, immediate pain relief sustained for 4 to 6 weeks.

Conclusions: …

Implantable Penile Prosthesis For Erectile Dysfunction: Insurance Coverage In The United States, Denise Asafu-Adjei, Natalie C Edwards, Krista D Nitschelm, Mital Patel, Samir K Bhattacharyya

Faculty, Staff and Students Publications

Introduction: A manufacturer's benefit verification database was evaluated to ascertain United States health plan insurance coverage for implantable penile prostheses for erectile dysfunction.

Methods: All-payer and employer-sponsored health plan benefit verification databases were queried to determine implantable penile prosthesis approval status. For the all-payer analysis, data by payer were available and presented for 2019-2021 to assess approval status varied by payer and over time. For the employer-sponsored health plan analysis, data by payer were available from 2018-2021.

Results: Benefit verification records for the all-payer database were available for 3,167 patients in 2019, 3,016 in 2020, and 2,837 in 2021. Insurance …