Digital Commons Network^™

Sci – U: Validation Of An Updated Self-Care Inventory For Contemporary Diabetes Management In Adolescents With Type 1 Diabetes, Sarah S Jaser, Tamim A Hamdan, Marisa E Hilliard, Joyce P Yi-Frazier, Randi Streisand, Faisal S Malik, Daniel J Desalvo, Maeve B O'Donnell, Annette M La Greca

Faculty, Staff and Students Publications

Aims: The Self-Care Inventory is a widely used measure to assess diabetes self-management behaviors. We sought to adapt and streamline the measure to reflect advances in diabetes management, including increased use of continuous glucose monitor and automated insulin delivery systems.

Methods: Through an expert-driven, iterative process, the updated Self-Care Inventory (SCI-U) was created by modifying items to reflect modern diabetes management and reducing the measure to 8 items. The measure was administered to 369 adolescents with type 1 diabetes in 4 regions of the United States, at baseline of two separate intervention trials (mean age = 15.5 ± 1.5, 56 …

Managing Hypercholesterolemia In Adults Older Than 75 Years Without A History Of Atherosclerotic Cardiovascular Disease: An Expert Clinical Consensus From The National Lipid Association And The American Geriatrics Society, Vera Bittner, Sunny A Linnebur, Dave L Dixon, Daniel E Forman, Ariel R Green, Terry A Jacobson, Ariela R Orkaby, Joseph J Saseen, Salim S Virani

Faculty, Staff and Students Publications

The risk of atherosclerotic cardiovascular disease increases with advancing age. Elevated LDL-cholesterol and non-HDL-cholesterol levels remain predictive of incident atherosclerotic cardiovascular events among individuals older than 75 years. Risk prediction among older individuals is less certain because most current risk calculators lack specificity in those older than 75 years and do not adjust for co-morbidities, functional status, frailty, and cognition which significantly impact prognosis in this age group. Data on the benefits and risks of lowering LDL-cholesterol with statins in older patients without atherosclerotic cardiovascular disease are also limited since most primary prevention trials have included mostly younger patients. Available …

Worldwide Prevalence Of Chagas Cardiomyopathy-An Analysis From The Global Burden Of Disease Dataset, Abdul Mannan Khan Minhas, Rachel Marcus, Salim S Virani, Michael D Shapiro, Robert J Mentz, Luis E Echeverria, Jonathan T Arcobello, Dmitry Abramov

Faculty, Staff and Students Publications

Purpose: The worldwide prevalence of Chagas Cardiomyopathy (CCM) as well as the trends in the prevalence of CCM over time have not been well characterized.

Methods: An analysis of the Global Burden of Disease (GBD) data from 1990 to 2019 was conducted to assess the burden of CCM. This study focused on determining the prevalence of CCM, along with its age-standardized prevalence rate (ASR) per 1,00,000 people, considering various patient demographics and geographical regions as defined in the GBD. Additionally, the study examined the temporal trends over this 30-year period by calculating the estimated annual percentage change (EAPC) in CCM …

Is Less More? Maximizing Outcomes By Tailoring Treatments To Patients: Oncofertility And Oncomenopause, Janice S Kwon, Marie Plante, Martha Hickey, Annabelle Huguenin, Sarah Hmaidan, Terri Lynn Woodard

Faculty, Staff and Students Publications

Notable advances have been made in improving survival outcomes in various cancers, but some have incurred undesirable costs and effects to patients with respect to fertility and menopause. Patients are living longer with cancer, and patient reported outcomes are influencing decision-making by individuals and their health care providers. It is essential to evaluate existing standards of care on an ongoing basis and prioritize quality of life and long-term survivorship, particularly for interventions in early-stage cancers and risk-reducing strategies that often yield long-term life expectancy.

Assessment Of Frailty In Patients With Heart Failure: A New Heart Failure Frailty Score Developed By Delphi Consensus, Cristiana Vitale, Emmanuelle Berthelot, Andrew J S Coats, Hill Loreena, Nancy M Albert, Michal Tkaczyszyn, Stamatis Adamopoulos, Lisa Anderson, Markus S Anker, Stefan D Anker, Derek Bell, Tuvia Ben-Gal, Vasiliki Bistola, Biykem Bozkurt, Poppy Brooks, Miguel Camafort, Juan Jesus Carrero, Ovidiu Chioncel, Dong-Ju Choi, Wook-Jin Chung, Wolfram Doehner, Daniel Fernández-Bergés, Roberto Ferrari, Mona Fiuzat, Juan Esteban Gomez-Mesa, Finn Gustafsson, Ewa Jankowska, Seok-Min Kang, Koichiro Kinugawa, Kamlesh Khunti, F D Richard Hobbs, Christopher Lee, Yuri Lopatin, Matthew Maddocks, Giuseppe Maltese, Elena Marques-Sule, Yuya Matsue, Òscar Miró, Brenda Moura, Massimo Piepoli, Piotr Ponikowski, Giovanni Pulignano, Amina Rakisheva, Robin Ray, Angela Sciacqua, Petar Seferovic, Trinidad Sentandreu-Mañó, Shirley Sze, Alan Sinclair, Anna Strömberg, Olga Theou, Hiroyuki Tsutsui, Izabella Uchmanowicz, Maria Teresa Vidan, Maurizio Volterrani, Stephan Von Haehling, Byungsu Yoo, Jian Zhang, Yuhui Zhang, Marco Metra, Giuseppe Massimo Claudio Rosano

Faculty, Staff and Students Publications

Aims: The Heart Failure Frailty Score (HFFS) is a novel, multidimensional tool to assess frailty in patients with heart failure (HF). It has been developed to overcome limitations of existing frailty assessment tools while being practical for clinical use. The HFFS reflects the concept of frailty as a multidimensional, dynamic and potentially reversible state, which increases vulnerability to stressors and risk of poor outcomes in patients with HF.

Methods and results: The HFFS was developed through a Delphi consensus process involving 54 international experts. This approach involved iterative rounds of questionnaires and interviews, where a panel of experts provided their …

Cardiovascular And Renal Treatment In Heart Failure Patients With Hyperkalemia Or High Risk Of Hyperkalemia: Rationale And Design Of The Care-Hk In Hf Registry, Stephen J Greene, Michael Böhm, Biykem Bozkurt, Javed Butler, John G F Cleland, Andrew J S Coats, Nihar R Desai, Diederick E Grobbee, Ellie Kelepouris, Fausto Pinto, Giuseppe Rosano, Isabelle Morin, Peter Szecsödy, Solenn Fabien, Sandra Waechter, Maria G Crespo-Leiro, Martin Hülsmann, Tibor Kempf, Otmar Pfister, Anne-Catherine Pouleur, Andrew J Sauer, Manish Saxena, Martin Schulz, Maurizio Volterrani, Stefan D Anker, Mikhail N Kosiborod

Faculty, Staff and Students Publications

Background: Despite guideline recommendations, many patients with heart failure (HF) do not receive target dosages of renin-angiotensin-aldosterone system inhibitors (RAASis) in clinical practice due, in part, to concerns about hyperkalemia (HK).

Methods and results: This noninterventional, multinational, multicenter registry (NCT04864795; 111 sites in Europe and the USA) enrolled 2558 eligible adults with chronic HF (mostly with reduced ejection fraction [HFrEF]). Eligibility criteria included use of angiotensin-converting-enzyme inhibitor/angiotensin-II receptor blocker/angiotensin-receptor-neprilysin inhibitor, being a candidate for or treatment with a mineralocorticoid receptor antagonist, and increased risk of HK (eg, current serum potassium > 5.0 mmol/L), history of HK in the previous …

Core Domain Set For Studies Of Acute Calcium Pyrophosphate Crystal Arthritis: Omeract Delphi Survey To Establish Consensus, Yiling Zhang, Sara K Tedeschi, Abhishek Abhishek, Owen Hensey, David Grossberg, Ken Cai, Beverley Shea, Jasvinder A Singh, Robin Christensen, Teodora Serban, Edoardo Cipolletta, Konstantinos Parperis, Cesar Diaz-Torne, Geraldine M Mccarthy, Fabio Becce, Tamer A Gheita, Silvia Sirotti, Sara Nysom Christiansen, Luis Coronel, Lisa K Stamp, Yousra H Abdel-Fattah, Tristan Pascart, Georgios Filippou, Lih En Hong, John Fitzgerald, Nicola Dalbeth

Faculty, Staff and Students Publications

Objective: To identify potential domains for the Outcome Measures in Rheumatology (OMERACT) core domain set for studies of an individual flare of acute calcium pyrophosphate (CPP) crystal arthritis.

Methods: Patient research partners (PRPs) and other participants (mainly clinicians and researchers) completed three rounds of survey using Delphi methodology. Consensus was defined as ≥ 70 % of both PRP and other participants groups rated the domain as a 'critically important domain to include'. In a subsequent ranking exercise, all participants were asked to rank and comment on up to 10 domains to include as core domains.

Results: Fourteen domains reached consensus …

Genome-Wide Association Studies Of Down Syndrome Associated Congenital Heart Defects Suggests A Genetically Heterogeneous Risk For Chd In Ds, Elizabeth R Feldman, Yunqi Li, David J Cutler, Tracie C Rosser, Stephanie B Wechsler, Lauren Sanclemente, Angela L Rachubinski, Natalina Elliott, Paresh Vyas, Irene Roberts, Karen R Rabin, Michael Wagner, Bruce D Gelb, Joaquin M Espinosa, Philip J Lupo, Adam J De Smith, Stephanie L Sherman, Elizabeth J Leslie-Clarkson

Faculty, Staff and Students Publications

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; other types of CHD, n=156) and DS with a structurally normal heart (DS+NH, n=572). We performed four GWAS for common variants (MAF>0.05) comparing DS with CHD, stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, …

Fine-Scale Population Structure Of Japanese Helicobacter Pylori Provides New Anthropological And Epidemiological Insights, Kohei Tomonari, Batsaikhan Saruuljavkhlan, Ricky Indra Alfaray, Kartika Afrida Fauzia, Osamu Matsunari, Daisuke Chinda, Tadashi Shimoyama, Phawinee Subsomwong, Nagisa Kinjo, Tetsu Kinjo, Yasuo Hanamure, Masato Shinzato, Rumiko Suzuki, Fukunori Kinjo, Shigeru Takigami, Toshio Fujioka, Takeshi Matsuhisa, Junko Akada, Takashi Matsumoto, Yoshio Yamaoka

Faculty, Staff and Students Publications

Helicobacter pylori is considered to contribute to gastric cancer and is also used as a marker to trace human migration due to its co-evolution with humans. To understand the recently proposed tripartite model suggesting three ancestral origins for the Japanese population and address the enigma of the high incidence of gastric cancer in Northeast Hondo (Hondo is mainland Japan), we conducted a fine-scale population structure analysis using a large Japanese H. pylori dataset, including 438 strains from 9 regions based on whole-genome sequences. As a result of fineSTRUCTURE analysis, it was found that H. pylori in Northeast Hondo is genetically …

Eye Catching, Alec B Rezigh, Anand D Jagannath, Austin C Rezigh, Ann Marie Kumfer, Stephanie V Sherman

Faculty, Staff and Students Publications

A 55 year-old man with type 2 diabetes mellitus presented to the emergency department with subacute nausea, vomiting, and abdominal pain. He was found to have epididymitis and hyperglycemia that improved with antibiotics and supportive care. However, he was also discovered to have significant acute kidney injury and chronic, relapsing-remitting bouts of eye pain and redness, confirmed to be uveitis on ophthalmologic evaluation. Despite completing an appropriate course of antibiotics, his pyuria and kidney injury persisted. An extensive infectious, autoimmune, and malignancy work-up was negative. As such, renal biopsy was pursued and revealed findings consistent with tubulointerstitial nephritis. With a …

Dietary Interventions To Support And Improve Sleep Disturbances And Insomnia Disorder In Menopause: From Bench To Bedside, Rosie H Musgrave, Sara Nowakowski, Tamlyn J Watermeyer, Emily J Arentson-Lantz, Greg J Elder

Faculty, Staff and Students Publications

Sleep is essential for maintaining physical and psychological health, and also cognitive health (referred to as 'brain health'). However, the transition to menopause has a direct impact upon sleep. Sleep disturbances are reported by approximately 40%-60% of menopausal women, and insomnia disorder is also prevalent. Diet-based interventions could potentially be used to improve subjective sleep quality in this population, and although there are several promising interventions which have been used in other groups that could be trialled, the evidence base is currently lacking. One particularly promising area for future research is that these interventions might be used alongside, or instead …

Dermatologic Fungal Neglected Tropical Diseases-Part I Epidemiology And Clinical Features, Kaya L Curtis, Jeremy A W Gold, Jana M Ritter, Theodore Rosen, Daniel Wagner C L Santos, Dallas J Smith, Shari R Lipner

Faculty, Staff and Students Publications

In this part 1 of a 2-part continuing medical education series, the epidemiology, clinical features, and diagnostic methods for fungal skin neglected tropical diseases (NTDs), which include eumycetoma, chromoblastomycosis, paracoccidioidomycosis, sporotrichosis, emergomycosis, talaromycosis, and lobomycosis, are reviewed. These infections, several of which are officially designated as NTDs by the World Health Organization, cause substantial morbidity and stigma worldwide and are receiving increased attention due to the potential for climate change-related geographic expansion. Domestic incidence may be increasing in the setting of global travel and immunosuppression. United States dermatologists may play a central role in early detection and initiation of appropriate …

The Aging Ovary Stands On The Shoulders Of Giant Multinucleated Cells, Avery A Ahmed, Stephanie A Pangas

Faculty, Staff and Students Publications

Reproductive aging is associated with declining fertility and increasing inflammation, though these events are not well understood. An exciting new study in PLOS Biology utilizes cutting-edge technologies to characterize the role of multinucleated giant cells in ovarian aging.

Protein Biomarkers Of Interstitial Lung Abnormalities In Relatives Of Patients With Pulmonary Fibrosis, Jonathan A Rose, Mark P Steele, Esteban J Kosak Lopez, Gisli Thor Axelsson, Andrea G Galecio Chao, Alan Waich, Katie Regan, Swati Gulati, Anthony H Maeda, Sharmin Sultana, Claire Cutting, Ann-Marcia C Tukpah, Andrew J Synn, Mary B Rice, Hilary J Goldberg, Joyce S Lee, David A Lynch, Rachel K Putman, Hiroto Hatabu, Benjamin A Raby, David A Schwartz, Ivan O Rosas, Gary M Hunninghake

Faculty, Staff and Students Publications

Rationale: First-degree relatives of patients with pulmonary fibrosis (referred to here as relatives) are at high risk for interstitial lung abnormalities (ILA), highlighting the need for biomarkers for risk prediction. We aimed to identify blood proteins associated with and predictive of ILA among relatives of patients with pulmonary fibrosis.

Methods: Relatives enrolled in two independent cohorts had protein levels measured using an aptamer-based proteomic platform. ILA were assessed with computed tomography scans as per Fleischner Society recommendations. Protein associations with ILA were assessed using regression. Significant proteins were used with clinical variables to detect ILA.

Results: Of 237 relatives from …

Parp Inhibitor Response Is Enhanced In Prostate Cancer When Xrcc1 Expression Is Reduced, Kaveri Goel, Vani Venkatappa, Kimiko L Krieger, Dongquan Chen, Arun Sreekumar, Natalie R Gassman

Faculty, Staff and Students Publications

Prostate cancer (PCa) is the second most common cancer worldwide and the fifth leading cause of cancer-related deaths among men. The emergence of metastatic castration-resistant prostate cancer (mCRPC) after androgen deprivation therapy (ADT) exemplifies the complex disease management for PCa. PARP inhibitors (PARPis) are being tested to treat mCRPC in tumors with defective homologous recombination repair (HRR) to address this complexity. However, increasing resistance towards PARPi in HRR-deficient patients and the low percentage of HRR-defective mCRPC patients requires the identification of new genes whose deficiency can be exploited for PARPi treatment. XRCC1 is a DNA repair protein critical in the …

Stress, Employment Changes, And Psychological Distress Among Caregivers Of Patients With Head And Neck Cancer, Lama Abdurrahman, Vlad C Sandulache, Cielito Reyes-Gibby, Erich M Sturgis, Pavan Jhaveri, Hoda Badr

Faculty, Staff and Students Publications

Importance: Patients undergoing external beam radiation therapy (EBRT) for head and neck cancer (HNC) often experience adverse effects that require substantial caregiving. The burdens of caregiving can impact caregiver employment and mental health over time, yet this topic remains underexplored.

Objective: To examine the associations between caregiving for patients with HNC who undergo EBRT and caregiver stress, employment status, and psychological distress.

Design, setting, and participants: This was a secondary analysis of data from a longitudinal survey study that surveyed caregivers at baseline (ie, at initiation of EBRT) and at 4-month and 12-month follow-ups. The study was conducted at 2 …

Performance Of Stool-Based Molecular Tests And Processing Methods For Paediatric Tuberculosis Diagnosis: A Systematic Review And Meta-Analysis, Lucía Carratalà-Castro, Shilzia Munguambe, Belén Saavedra-Cervera, Petra De Haas, Alexander Kay, Olivier Marcy, Pamela Nabeta, Willy Ssengooba, Elisabetta Ghimenton-Walters, Sozinho Acácio, Maryline Bonnet, Joanna Ehrlich, Andrew R Dinardo, Anca Vasiliu, Christoph Lange, Sabine Hermans, Anna M Mandalakas, Elisa López-Varela, Alberto L García-Basteiro

Faculty, Staff and Students Publications

Background: There has been a global pursuit to improve the diagnosis of tuberculosis in young children by applying diagnostic methods on accessible biospecimens such as stool. We aimed to conduct a systematic review on the accuracy of stool-based molecular tests for tuberculosis diagnosis in children and to assess the impact of the available pre-processing methods and other design characteristics.

Methods: In this systematic review and meta-analysis, we evaluated studies in children younger than 16 years with presumptive tuberculosis that were published in English, Spanish, French, and Portuguese from Jan 1, 2000, to May 3, 2024, in MEDLINE, Embase, and Embase …

Epidemiology Of Intestinal Parasite Infections And Multiparasitism And Their Impact On Growth And Hemoglobin Levels During Childhood In Tropical Ecuador: A Longitudinal Study Using Molecular Detection Methods, Rojelio Mejia, Irina Chis Ster, Martha E Chico, Irene Guadalupe, Andrea Arévalo-Cortés, Andrea Lopez, Aida Y Oviedo-Vera, Philip J Cooper

Faculty, Staff and Students Publications

Background: There are few longitudinal epidemiological studies of intestinal parasitic infections (IPI) and their health effects. We studied the epidemiology and determinants of IPI and multiparasitism during childhood using molecular methods for parasite detection and analysed their effects on growth and hemoglobin levels.

Methods: Random sample of 401 children from an Ecuadorian birth cohort followed up to 8 years of age. Data on environmental and sociodemographic characteristics were collected by questionnaires. Stool samples were collected, and weight, height, and hemoglobin levels were measured at 7 and 13 months, and 2, 3, 5, and 8 years. Stool samples were analysed using …

Collective Acoustics In Pan: Conserved Roots In The Evolution Of Human Musicality, James Brooks, Zanna Clay, Valérie Dufour, Pawel Fedurek, Cédric Girard-Buttoz, Shinya Yamamoto

Faculty, Staff and Students Publications

The evolution of human musicality has attracted immense and intense cross-disciplinary research attention. However, despite widespread interest, there has been surprisingly little explicit focus on the conserved roots and evolutionary precursors of musicality in our closest relatives, chimpanzees (Pan troglodytes) and bonobos (P. paniscus). We here aim to evaluate the extant literature on chimpanzees and bonobos in behavioral contexts relevant to evolutionary theories of musicality, especially simultaneous production of acoustics signals by multiple individuals ("collective acoustics"). We illustrate the importance of this literature by evaluating and comparing a pair of recent, influential, and competing theories on the evolution of human …

Biomarkers Of Cellular Senescence And Major Health Outcomes In Older Adults, Steven R Cummings, Li-Yung Lui, Aversa Zaira, Theresa Mau, Roger A Fielding, Elizabeth J Atkinson, Sheena Patel, Nathan Lebrasseur

Faculty, Staff and Students Publications

The geroscience hypothesis proposes that underlying biological processes, such as the accumulation of senescent cells, have deleterious effects on multiple tissues and increase the risk of many chronic conditions with aging. Senescent cells produce heterogenous biomarkers, also called senescence-associated secretory phenotype (SASP). Circulating concentrations of senescence biomarkers may reflect an underlying burden of senescent cells in various tissues. Plasma levels of these proteins have been associated with increased mortality and poorer physical function. The associations of them with the incidence of major age-related conditions including heart failure, cardiovascular disease, stroke, and dementia, have not been studied. We measured 35 senescence …

Ophthalmology Examinations In Children With Skull Fractures And Underlying Focal Hemorrhage, Karli Breeden, Cindy W Christian, Joanne N Wood, Gil Binenbaum, Daniel M Lindberg, Angela Bachim, Colleen J Bressler, Lori Frasier, Terra Frazier, Nicole R Johnson, Natalie Laub, Megan M Letson, Tagrid Ruiz-Maldonado, Matthew Valente, Jenna Kiely, Jan Leonard, M Katherine Henry

Faculty, Staff and Students Publications

Objectives: To assess the frequency and yield of retinal examination in children below 2 years old undergoing abuse evaluations in the setting of skull fracture(s) and small underlying intracranial hemorrhage.

Methods: This cross-sectional study used CAPNET, a multicenter child physical abuse network, to identify children below 2 years with a skull fracture(s) and intracranial injury limited to an underlying small focal intracranial hemorrhage undergoing subspeciality child abuse evaluations. Our outcomes of interest were (1) the performance of a retinal examination, (2) the identification of retinal hemorrhages, and (3) associations of clinical factors and CAPNET site with the performance of retinal …

Linking Symptom Inventories Using Semantic Textual Similarity, Eamonn Kennedy, Shashank Vadlamani, Hannah M Lindsey, Kelly S Peterson, Kristen Dams O'Connor, Ronak Agarwal, Houshang H Amiri, Raeda K Andersen, Talin Babikian, David A Baron, Erin D Bigler, Karen Caeyenberghs, Lisa Delano-Wood, Seth G Disner, Ekaterina Dobryakova, Blessen C Eapen, Rachel M Edelstein, Carrie Esopenko, Helen M Genova, Elbert Geuze, Naomi J Goodrich-Hunsaker, Jordan Grafman, Asta K Håberg, Cooper B Hodges, Kristen R Hoskinson, Elizabeth S Hovenden, Andrei Irimia, Neda Jahanshad, Ruchira M Jha, Finian Keleher, Kimbra Kenney, Inga K Koerte, Spencer W Liebel, Abigail Livny, Marianne Løvstad, Sarah L Martindale, Jeffrey E Max, Andrew R Mayer, Timothy B Meier, Deleene S Menefee, Abdalla Z Mohamed, Stefania Mondello, Martin M Monti, Rajendra A Morey, Virginia Newcombe, Mary R Newsome, Alexander Olsen, Nicholas J Pastorek, Mary Jo Pugh, Adeel Razi, Jacob E Resch, Jared A Rowland, Kelly Russell, Nicholas P Ryan, Randall S Scheibel, Adam T Schmidt, Gershon Spitz, Jaclyn A Stephens, Assaf Tal, Leah D Talbert, Maria Carmela Tartaglia, Brian A Taylor, Sophia I Thomopoulos, Maya Troyanskaya, Eve M Valera, Harm Jan Van Der Horn, John D Van Horn, Ragini Verma, Benjamin S C Wade, Willian C Walker, Ashley L Ware, J Kent Werner, Keith Owen Yeates, Ross D Zafonte, Michael M Zeineh, Brandon Zielinski, Paul M Thompson, Frank G Hillary, David F Tate, Elisabeth A Wilde, Emily L Dennis

Faculty, Staff and Students Publications

An extensive library of symptom inventories has been developed over time to measure clinical symptoms of traumatic brain injury (TBI), but this variety has led to several long-standing issues. Most notably, results drawn from different settings and studies are not comparable. This creates a fundamental problem in TBI diagnostics and outcome prediction, namely that it is not possible to equate results drawn from distinct tools and symptom inventories. Here, we present an approach using semantic textual similarity (STS) to link symptoms and scores across previously incongruous symptom inventories by ranking item text similarities according to their conceptual likeness. We tested …

Psychometric Properties Of The Spanish Yale-Brown Obsessive-Compulsive Scale - Second Edition, Eric A Storch, Jessica Sc Cheng, Miranda Higham, Josselyn S Muñoz, Vanessa Zavala Cruz, Dayan Berrones, Diana P Obando, Jacey L Anderberg, Renee M Frederick, Vissente Tapia-Cuevas, Macarena Churruca Muñoz, Constanza Uribe Villar, Pablo R Moya, Marcos E Ochoa-Panaifo, Mayra C Martinez Mallen, Andrew D Wiese, Caitlin M Pinciotti, Melisa N Sagarnaga, Joseph F Mcguire, Ogechi C Onyeka, María B Moyano, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (Gttoc), Wayne K Goodman, James J Crowley

Faculty, Staff and Students Publications

The Yale-Brown Obsessive-Compulsive Scale, Second Edition (Y-BOCS-II) is an evidence-based clinician-rated measure for assessing the presence and severity of obsessive-compulsive symptoms. The Spanish version of the Y-BOCS-II has not yet been validated. The present study examines the psychometric properties of the Spanish Y-BOCS-II (Spanish-Y-BOCS-II) in adults with obsessive-compulsive disorder (OCD) who are of Hispanic/Latino ancestry. The Spanish-Y-BOCS-II was administered to 1805 adults with OCD. Participants also completed a battery of measures assessing OCD, depression, and anxiety symptoms. The internal consistency for the Symptom Checklist (Kuder-Richardson-20=0.92), Obsession Severity (α=0.87), Compulsion Severity (α=0.86), and Total Severity (α=0.92) were high. The inter-rater reliability …

Neuroanatomical Features Of Naa10 And Naa15-Related Neurodevelopmental Syndromes, Rahi Patel, Rikhil Makwana, Carolina Christ, Elaine Marchi, Christina Y Miyake, Fabricio Guimaraes Goncalves, Gholson J Lyon, Matthew T Whitehead

Faculty, Staff and Students Publications

Background: NAA10-related and NAA15-related neurodevelopmental (ND) syndromes present with intellectual disability, hypotonia, cardiac abnormalities, and delayed development. While data exists on the clinical manifestations of these conditions, there are few reports describing the neuroanatomical abnormalities present on imaging.

Objective: We aim to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15-related neurodevelopmental symptoms and assess the severity and number of neuroanatomical anomalies and their associated functional impairments to better understand the pathophysiology of these disease processes.

Materials and methods: Neuroimaging studies were obtained from 26 probands (18 with pathogenic variants in NAA10, 8 with pathogenic variants in …

Clinical Manifestations, Disease Penetrance, And Treatment In Individuals With Socs1 Insufficiency: A Registry-Based And Population-Based Study, Jerome Hadjadj, Anna Wolfers, Oleg Borisov, Derek Hazard, Ronan Leahy, Marie Jeanpierre, Alexandre Belot, Shahrzad Bakhtiar, Fabian Hauck, Pui Y Lee, Stefano Volpi, Serena Palmeri, Vincent Barlogis, Nathalie Aladjidi, Georg Ebetsberger-Dachs, Jerome Avouac, Fabienne Charbit-Henrion, Morgane Cheminant, Jean Donadieu, Sujal Ghosh, David P Hoytema Van Konijnenburg, Julia Körholz, Jacinta Bustamante, Jeremie Rosain, Lisa Forbes Satter, Ingrid Selmeryd, Georgios Sogkas, Benedicte Neven, Frederic Rieux-Laucat, Stephan Ehl

Faculty, Staff and Students Publications

Background: Suppressor of cytokine signalling 1 (SOCS1) insufficiency is an inborn error of immunity affecting the negative regulation of cytokine and growth factor signalling. We aimed to enhance the understanding of clinical manifestations, disease trajectories, disease penetrance, and the effect of Janus kinase (JAK) inhibition in individuals with SOCS1 insufficiency.

Methods: This study used data from two independent cohorts: the European Society for Immunodeficiencies (ESID) registry and the UK Biobank. Participants from the ESID registry were from nine European countries (Austria, Belgium, France, Germany, Ireland, Italy, Portugal, Sweden, and Ukraine), China, Taiwan, and the USA. Participants from the ESID registry …

Plasma Microbial Cell-Free Dna Sequencing For The Detection Of Kingella Kingae Pediatric Spinal Infections, Asim A Ahmed, Sarah Y Park, Matthew J Smollin, Martin S Lindner, Adriana Sarmiento Clemente, Ana Del Valle Penella, P Marcelo Laufer, Carolina Sanchez-Vegas, Manuel R Cotilla, Marian E Melish, Connie Trieu, Nazia A Kabani, Joshua Cooper, Audrey R Lloyd, David W Kimberlin, John C Arnold, Alejandro Jordan-Villegas, Lori E Patterson, Catherine E Foster, Pablo Yagupsky

Faculty, Staff and Students Publications

Background: Diagnosis of Kingella kingae skeletal system infections is made challenging by the microbe's fastidious nature. Detection and quantification of circulating microbial cell-free DNA (mcfDNA) in plasma by the Karius Test, a commercial metagenomic sequencing test, may offer promise in diagnosing pediatric spinal infections caused by difficult-to-culture organisms such as K. kingae .

Methods: Plasma mcfDNA sequencing detections of K. kingae from April 2018 to December 2020 were reviewed to identify pediatric (age < 18 years) patients. Medical charts of those with spinal infections were reviewed, and mcfDNA sequencing diagnostic performance was compared with usual care tests (ie, cultures, polymerase chain reaction).

Results: Ten children with K. kingae spinal infections were identified across 7 institutions. The median age was 16.5 months (range 11-23 months). All case-patients had vertebral osteomyelitis …

Real-Time Surveillance System For Patient Deterioration: A Pragmatic Cluster-Randomized Controlled Trial, Sarah C Rossetti, Patricia C Dykes, Chris Knaplund, Sandy Cho, Jennifer Withall, Graham Lowenthal, David Albers, Rachel Y Lee, Haomiao Jia, Suzanne Bakken, Min-Jeoung Kang, Frank Y Chang, Li Zhou, David W Bates, Temiloluwa Daramola, Fang Liu, Jessica Schwartz-Dillard, Mai Tran, Syed Mohtashim Abbas Bokhari, Jennifer Thate, Kenrick D Cato

Faculty, Staff and Students Publications

The COmmunicating Narrative Concerns Entered by RNs (CONCERN) early warning system (EWS) uses real-time nursing surveillance documentation patterns in its machine learning algorithm to identify deterioration risk. We conducted a 1-year, multisite, pragmatic trial with cluster-randomization of 74 clinical units (37 intervention; 37 usual care) across 2 health systems. Eligible adult hospital encounters were included. We tested if outcomes differed between patients whose care teams were and patients whose care teams were not informed by the CONCERN EWS. Coprimary outcomes were in-hospital mortality (examined as instantaneous risk) and length of stay. Secondary outcomes were cardiopulmonary arrest, sepsis, unanticipated intensive care …

Cumulative Effect Of Targeted Interventions On Radiologist Recommendations For Additional Imaging, Nooshin Abbasi, Neena Kapoor, Ronilda Lacson, Jeffrey P Guenette, Sonali Desai, David Lucier, Sanjay Saini, Rachel Sisodia, Ali S Raja, David W Bates, Ramin Khorasani

Faculty, Staff and Students Publications

Background Ambiguous or unnecessary radiologist recommendations for additional imaging (RAIs) can lead to excessive imaging use and diagnostic errors. Purpose To determine the cumulative impacts of multifaceted technology-enabled interventions aimed at optimizing RAI on RAI rate, actionability, and resolution over an 8-year period. Materials and Methods In this retrospective cohort study, conducted from January 2015 to December 2022, radiology reports from two tertiary hospitals (study site and control site) were analyzed. A series of quality improvement interventions, including radiologist education, electronic communication tools for tracking RAIs, and performance reports, were implemented at the study site but not at the control …

G-Protein Coupled Receptors In Metabolic Reprogramming And Cancer, Songyeon Ahn, Benny Abraham Kaipparettu

Faculty, Staff and Students Publications

G-protein coupled receptors (GPCR) are one of the frequently investigated drug targets. GPCRs are involved in many human pathophysiologies that lead to various disease conditions, such as cancer, diabetes, and obesity. GPCR receptor activates multiple signaling pathways depending on the ligand and tissue type. However, this review will be limited to the GPCR-mediated metabolic modulations and the activation of relevant signaling pathways in cancer therapy. Cancer cells often have reprogrammed cell metabolism to support tumor growth and metastatic plasticity. Many aggressive cancer cells maintain a hybrid metabolic status, using both glycolysis and mitochondrial metabolism for better metabolic plasticity. In addition …

Fetal Body Composition In Twins And Singletons, Jessica L Gleason, Wesley Lee, Zhen Chen, Kathryn A Wagner, Dian He, William A Grobman, Roger B Newman, Seth Sherman, Robert Gore-Langton, Edward Chien, Luis Goncalves, Katherine L Grantz

Faculty, Staff and Students Publications

Importance: An emerging paradigm attributes third-trimester fetal growth deceleration in uncomplicated twin pregnancies to an evolutionary adaptive process. Evaluating longitudinal fetal soft-tissue development may provide important insights into differential fetal growth trajectories between twins and singletons.

Objective: To compare twin vs singleton lean and fat tissue growth across pregnancy.

Design, setting, and participants: Prospective cohort study of dichorionic twins and singletons with serial ultrasound scans to chart fetal growth (2009-2013) and collect fetal volume data to measure fat and lean tissue (2015-2019) in 12 US clinical centers. Participants were individuals with singleton (n = 2802 enrolled) and twin (n = …