Analytical, Diagnostic and Therapeutic Techniques and Equipment Commons^™

Safety And Efficacy Of Individualised Exercise And Nad+ Precursor Supplementation In Patients With Friedreich’S Ataxia In The Usa: A Single-Centre, 2 × 2 Factorial, Randomised Controlled Trial, Kimberly Lin, Anna Bucha, Kara Mcsweeney, Kristin Wade, Antoneta Karaj, Jaclyn Tamaroff, Shannon O'Malley, Nicole Chung, Nicolette Cilenti, Julianne Wanner, Gabriel Adzika, Clementina Mesaros, Ian Blair, Teerapat Rojsajjakul, Suraj Serai, Jennifer Farmer, Kyle Bryant, Yingying Lu, Michael Harhay, David Weber, Stephen Paridon, Erin Seifert, Mary Putt, Payman Zamani, Joseph Baur, David Lynch, Shana Mccormack

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND:Friedreich's ataxia is a rare, chronic, progressive, neurodegenerative condition affecting multiple organ systems, including neurological, musculoskeletal, cardiac, and endocrine systems, and is marked by low cardiopulmonary fitness. We tested the effect of exercise and NAD⁺ precursor supplementation with nicotinamide riboside, which have each shown benefits in animal and early clinical studies, on cardiopulmonary fitness in individuals with Friedreich's ataxia.

METHODS: This 12-week, outpatient, phase 2, single-site (Children's Hospital of Philadelphia, Philadelphia, PA, USA), randomised, 2 × 2 factorial clinical trial recruited individuals aged 10–40 years with an ejection fraction of 45% or greater who were able to exercise. A …

Increasing Utilization Trends Of Robotic Assistance In Orthopaedic Surgery, Anish K. Ponna, Alec Giakas, Anthony A. Khoudary, Spencer N. Uggla, Sina Ramtin, Yousef A. Soliman, Asif M. Ilyas

Department of Orthopaedic Surgery Faculty Papers

INTRODUCTION: Robotic-assisted surgeries in orthopaedics have increased, particularly in hip and knee arthroplasty and spine surgeries. This study evaluates national utilization trends of robotic-assisted orthopaedic surgeries and demographic and geographic distribution of patients undergoing these surgeries.

METHODS: A retrospective cohort study was conducted on patients who underwent total hip arthroplasty, total and partial knee arthroplasty, or spine arthrodesis from 2017 to 2023 using the TriNetX database. Relevant International Classification of Diseases, 10th Revision, and Current Procedural Terminology codes identified patients who underwent a primary surgery with a corresponding robot-assisted code on the same day. Temporal trends in procedural volume were …

Evaluating The American Society Of Hematology Quality Measure On Timeliness Of Analgesics For Sickle Cell Disease Pain Crisis, Ibrahim Gwarzo, Harish Chandra Dega, Paula Tanabe, Robin Miller, David C. Brousseau

Department of Medicine Faculty Papers

The American Society of Hematology (ASH) proposed the median time to first emergency department (ED) administration of pain medication for patients with sickle cell disease (SCD) vaso-occlusive pain episodes (VOE) as a site-level quality measure. Generalizable studies assessing current guideline adherence recommending pain medications within 60 minutes are lacking. We leveraged multisite electronic health record data from Epic's Cosmos research platform to analyze ED encounters for SCD VOE from 1 January 2019 to 31 December 2024, with administration of at least 1 pain medication. We calculated the quality measure (median time to first pain medication) and ranked sites based on …

Clinical Performance Of A Novel Point-Of-Care High-Sensitivity Cardiac Troponin I Assay, Alan H. B. Wu, Simon A. Mahler, Stacey L. House, Saeed A. Jortani, Michael H. Creer, Kristin L. Rising, Jason J. Bischof, Chad Crystal, Gary F. Headden, Fred S. Apple, Nicholas E. Harrison, Andrew C. Meltzer, Justin T. Baca, Brian Tiffany, Mark Sochor, Grace U. Pentecostes, Katrina P. Di Tullio, Manish S. Gupta, Adam J. Singer, James L. Januzzi

Department of Emergency Medicine Faculty Papers

BACKGROUND: High-sensitivity cardiac troponin (hs-cTn) assays performed in the central laboratory have long turnaround times. This study evaluates the clinical performance of a novel bedside point-of-care (POC) hs-cTnI assay (i-STAT® hs-TnI) to aid in the diagnosis of myocardial infarction (MI).

METHODS: A prospective multisite cohort study involving emergency department (ED) patients with symptoms suggestive of acute coronary syndrome was conducted at 28 sites across the United States. Serial whole blood samples were collected at 0-1 h and >1-3 h from ED presentation. Primary outcome was MI or non-MI. Sensitivity, specificity, and negative predictive value (NPV) for MI were calculated with …

Reply To Fernández Et Al. Comment On "Goudra Et Al. Anesthesia For Bronchoscopy-An Update, Basavana Goudra, Lalitha Sundararaman, Prarthna Chandar, Michael Green

Department of Medicine Faculty Papers

No abstract provided.

Development And Validation Of Clinical Screening Systems For Cushing Disease In The United States, Jorge E. Salcedo-Sifuentes, Sonal Mehta, Carter M. Suryadevara, Marvin Bergsneider, Kevin C. J. Yuen, Paul A. Gardner, Julie M. Silverstein, Albert H. Kim, James J. Evans, Garni Barkhoudarian, Juan C. Fernandez-Miranda, William T. Couldwell, Robert C. Rennert, Varun R. Kshettry, Kyle C. Wu, Carolina Benjamin, Gabriel Zada, Michael R. Chicoine, Jamie J. Van Gompel, Michael P. Catalino, Michael Karsy, Adam Mamelak, Ildiko Torok, Trevor Low, Won Kim, Donato R. Pacione, Nidhi Agrawal

Department of Neurosurgery Faculty Papers

PURPOSE: Clinical screening systems (CSSs) for Cushing syndrome (CS) validated in Europe have not been evaluated for CS or Cushing disease (CD) in the United States (US). We aimed to evaluate existing CSSs in US patients and develop two new symptom-based CSSs to identify patients with high pre-test probability of disease warranting referral for definitive biochemical workup-one for broad CS screening and one specifically for CD.

METHODS: Data were obtained from the Registry of Adenomas of the Pituitary and Related Disorders (RAPID)-comprising 615 patients who underwent transnasal transsphenoidal resection for CD at one of 11 US pituitary centers, the Centers …

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …

Utility Of The Us Preventive Services Task Force For Preeclampsia Risk Assessment And Aspirin Prophylaxis, Thomas Mcelrath, Arun Jeyabalan, Arkady Khodursky, Alison Moe, Manfred Lee, Maneesh Jain, Laura Goetzl, Elizabeth Sutton, Pamela Simmons, George Saade, Antonio Saad, Luis Pacheco, Esther Park-Hwang, Antonina Frolova, Ebony Carter, Ai-Ris Collier, Daniel Kiefer, Vincenzo Berghella, Rupsa Boelig, Michal Elovitz, Cynthia Gyamfi-Bannerman, Joseph Biggio, Kara Rood, William Grobman, Carrie Haverty, Morten Rasmussen

Department of Obstetrics and Gynecology Faculty Papers

IMPORTANCE: The US Preventive Services Task Force (USPSTF) guidelines on preeclampsia risk assessment and aspirin prophylaxis (AP) have not been evaluated for clinical utility.

OBJECTIVE: To evaluate which characteristics in the USPSTF guidelines identify risk status and the association of preeclampsia risk with AP recommendations.

DESIGN, SETTING, AND PARTICIPANTS: This observational cohort study enrolled from July 2020 to March 2023 with data analysis performed from October to December 2024. Enrollment occurred at 11 centers throughout the US or via direct-to-participant recruitment. Pregnant participants aged 18 years or older with a singleton pregnancy less than 22 weeks' gestation were selected via …

Cardiovascular Health In Cardiac Rehabilitation: Applying The American Heart Association Life's Simple 7 Framework In A Center-Based Cohort, Audry Chacin-Suarez, Tomoaki Hama, Matthew P. Johnson, Helayna Abraham, Thomas P. Olson, Laprincess C. Brewer

Einstein Health Papers

BACKGROUND: Cardiac rehabilitation (CR) is a comprehensive secondary cardiovascular disease program with structured lifestyle interventions to reduce morbidity and mortality. The American Heart Association cardiovascular health (CVH) framework measures health-promoting behaviors and clinical factors, but it has not been rigorously evaluated in the CR setting.

METHODS: This retrospective cohort study analyzed patients attending CR from January 2018 to September 2020. Patients were evaluated at baseline (pre-CR) and completion (post-CR) using 3 clinical factors (blood pressure, cholesterol, and hemoglobin A1c) and 4 health behaviors (smoking, body mass index, physical activity, and diet). CVH score was computed as a composite of each …

Colorectal Cancer And The Risk Of Mortality Among Individuals With Suicidal Ideation, Srikanta Banerjee, Jagdish Khubchandani, Stanley Nkemjika

Department of Psychiatry and Human Behavior Faculty Papers

Suicide is a major public health problem that has grown at alarming rates in the last two decades. Colorectal cancer (CRC) is one of the most common causes of cancer deaths in the United States in both males and females. However, the influence of suicidal ideation (SI) on the association between CRC and risk of mortality has not been well examined.

METHODS: For this study, the 2005-2018 National Health and Nutrition Examination Survey (NHANES), a nationally representative survey of United States adults aged 20 years or older, was utilized. CRC survivorship was determined from self-reported data on CRC, and mortality …

Causes Of Death Among Us Medical Residents, Nicholas A. Yaghmour, William E. Bynum, Frederic W. Hafferty, Karen D. Könings, Thomas Richter, Timothy P. Brigham, Thomas J. Nasca

Division of Nephrology Faculty Papers

IMPORTANCE: From 2000 to 2014, the leading causes of medical resident death in the United States were neoplastic diseases and suicide.

OBJECTIVE: To examine whether US medical resident rates of death have changed since 2014 and whether causes of resident death differ by specialty.

DESIGN, SETTING, AND PARTICIPANTS: In this cross-sectional study, residents and fellows who were enrolled in Accreditation Council for Graduate Medical Education (ACGME)-accredited training programs and who died from January 2015 to December 2021 were submitted to the National Death Index to obtain causes of death. These decedents were compared with residents and fellows who died between …

Physical Activity Measurement Reactivity Among Midlife Adults With Elevated Risk For Cardiovascular Disease: Protocol For Coordinated Analyses Across Six Studies., Kiri Baga, Gabrielle M Salvatore, Iris Bercovitz, Amanda L Folk, Ria Singh, Laura M König, Meghan L Butryn, Jacqueline A Mogle, Danielle Arigo

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Cardiovascular disease (CVD) remains the leading cause of death in the United States, and adults aged 40-60 years with specific health conditions are at particularly elevated risk for developing CVD. Physical activity (PA) is a key cardioprotective behavior and many interventions exist to promote PA in this group. Effective promotion requires accurate assessment of PA behavior; as PA is often estimated by averaging across multiple days, a threat to accurate assessment is measurement reactivity, or an atypical increase in PA behavior at the start of measurement periods that may bias conclusions. Evidence for PA measurement reactivity is equivocal, though …

Religion And Attitudes Toward Xenotransplantation: Results Of A Nationwide Survey In The United States., Daniel J Hurst, Luz A Padilla, Amanda Zink, Brendan Parent, Laura L Kimberly

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Religious viewpoints have been shown to influence the ways in which many persons approach medical decision-making and have been noted as a potential barrier to xenotransplantation acceptance. This study sought to explore how attitudes toward xenotransplantation differ among various religious beliefs. A national Likert-scale survey was conducted in 2023 with a representative sample in the United States. Religious belief was self-reported. Regression analysis was used to identify associations with religious belief and hesitations about xenotransplantation. Five thousand and eight individuals across the United States responded to the survey. The two biggest concerns about xenotransplantation across religious groups were the current …

An Evaluation Of The Decline In Primary Care Physician Visits, 2010 To 2021, Anuradha Jetty, Marie Ezran, Alison Huffstetler, Yalda Jabbarpour

Department of Family & Community Medicine Faculty Papers

INTRODUCTION: Primary care is the backbone of the United States healthcare system, yet it continues to be underfunded and inaccessible to many. Previous studies explored primary care visit patterns until 2016, leaving gaps in our understanding of how recent factors like state Medicaid expansions, the Coronavirus Disease 2019 (COVID-19) pandemic, and population growth have influenced these patterns. Hence, the objective of the current study was to analyze the trends in primary care visits provided by outpatient clinicians over time and by visit type and contextualize study findings within the changing healthcare landscape.

METHODS: The Medical Expenditure Panel Survey data (2010-2021) …

Clinician Perspectives On Virtual Reality Use In Physical Therapy Practice In The United States, Danielle T. Felsberg, Jared T. Mcguirt, Scott E. Ross, Louisa D. Raisbeck, Charlend K. Howard, Christopher K. Rhea

Rehabilitation Sciences Faculty Publications

The primary goal of physical rehabilitation is to assess movement impairments and restore function to improve overall quality of life. Virtual reality (VR) may provide the optimal environment to promote these goals due to its motivating and modifiable nature which can be difficult to accomplish through traditional real-world therapeutic methods. Current research of VR for rehabilitation has demonstrated that VR interventions can produce clinically meaningful change in motor outcomes. Despite this, adoption and usage of VR by physical therapy professionals is unclear due to the limited research in this area. Thus, the purpose of this study was to identify the …

Surgical Delay-Associated Mortality Risk Varies By Subtype In Loco-Regional Breast Cancer Patients In Seer-Medicare, Macall Leslie Salewon, Rashmi Pathak, William Dooley, Ronald Squires, Hallgeir Rui, Inna Chervoneva, Takemi Tanaka

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Substantial evidence supports that delay of surgery after breast cancer diagnosis is associated with increased mortality risk, leading to the introduction of a new Commission on Cancer quality measure for receipt of surgery within 60 days of diagnosis for non-neoadjuvant patients. Breast cancer subtype is a critical prognostic factor and determines treatment options; however, it remains unknown whether surgical delay-associated breast cancer-specific mortality (BCSM) risk differs by subtype. This retrospective cohort study aimed to assess whether the impact of delayed surgery on survival varies by subtype (hormone [HR] + /HER2 -, HR -/HER2 -, and HER2 +) in patients with …

Deceased Donor Renal Allograft Utility In Adult Single And Multi-Organ Transplantation In The United States, Peter J. Altshuler, Adam S. Bodzin, Kenneth A. Andreoni, Pooja Singh, Anju Yadav, Jaime M. Glorioso, Ashesh P. Shah, Carlo B. Ramirez, Warren R. Maley, Adam M. Frank

Department of Surgery Faculty Papers

BACKGROUND: Deceased donor multiorgan transplants utilizing kidneys (MOTs) can improve outcomes for multiorgan recipients but reduces kidneys for chronic renal failure patients.

METHODS: We reviewed the Organ Procurement and Transplantation Network database from 2015 through 2019, for adult deceased donor kidney transplants. Recipients were classified as kidney transplant alone (KTA) (n = 62,252) or MOTs pancreas-kidney, simultaneous pancreas-kidney (n = 3,976), liver-kidney, simultaneous liver-kidney (n = 3,212), heart-kidney, simultaneous heart-kidney (n = 808), and "other"-kidney, simultaneous "other" kidney (n = 73).

RESULTS: Liver, heart, and lung-alone transplants were at least 7 times more frequent than their MOT correlate, whereas the …

Pediatric Cardiac Xenotransplantation And Expanded Access: Ethical Considerations, Daniel J Hurst, Christopher Bobier, Anthony Merlocco, Luz A Padilla, Daniel Rodger, David Cleveland, John D Cleveland

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Due to the current organ shortage waitlist, alternatives to allotransplantation are necessary. Xenotransplantation is currently being pursued as one such alternative in adults in need of kidney or heart transplantation. Cardiac xenotransplantation of genetically modified pig hearts has been conducted twice in adults under the United States Food and Drug Administration (FDA) expanded access criteria. Because of the shortage of transplantable hearts for children as well as the lack of mechanical circulatory support in this population, pediatric researchers are exploring FDA expanded access in high-risk neonates and infants who lack alternative options for survival. The adult cardiac xenotransplantation experience with …

Adaptation Of The Socioecological Model To Address Disparities In Engagement Of Black Men In Prostate Cancer Genetic Testing, Amy Leader, Timothy Rebbeck, William Oh, Alpa Patel, Eric Winer, Leeann Bailey, Leonard Gomella, Crystal Lumpkins, Isla Garraway, Lisa Aiello, Monica Baskin, Heather H Cheng, Kathleen Cooney, Amanda Ganzak, Daniel George, Susan Halabi, Feighanne Hathaway, Claire Healy, Joseph W Kim, Michael Leapman, Stacy Loeb, Kara Maxwell, Christopher Mcnair, Todd Morgan, Breanne Prindeville, Howard R Soule, Whitney Steward, Sakinah Suttiratana, Mary-Ellen Taplin, Kosj Yamoah, Thierry Fortune, Kris Bennett, Joshua Blanding-Godbolt, Laura Gross, Veda Giri

Department of Medical Oncology Faculty Papers

BACKGROUND: Black men consistently have higher rates of prostate cancer (PCA)- related mortality. Advances in PCA treatment, screening, and hereditary cancer assessment center around germline testing (GT). Of concern is the significant under-engagement of Black males in PCA GT, limiting the benefit of precision therapy and tailored cancer screening despite longstanding awareness of these disparities. To address these critical disparities, the Socioecological Model (SEM) was employed to develop comprehensive recommendations to overcome barriers and implement equitable strategies to engage Black males in PCA GT.

METHODS: Clinical/research experts, national organization leaders, and community stakeholders spanning multiple regions in US and Africa …

Insurance Status And Its Effect On Mothers With Postpartum Depression (Ppd) In The United States, Nikita Paranjape, Sanjana Davuluri, Alexander Youssef, Lillian J. Alonzo, Akshad Thirugnanam, Cara Fogarty

Rowan-Virtua Research Day

Postpartum depression (PPD) is a significant health issue in the US today: 1 in 8 new mothers experience symptoms of PPD. Understanding how social determinants of health impact the short and long-term health outcomes of patients with PPD is key to providing interventions that are effective, efficient, equitable, and patient-centered. In this literature review, we aimed to shed light on the association between discrepancies in health outcomes of mothers with PPD and their insurance status. A search was conducted across PubMed and ProQuest Central databases focusing on literature from 2014 onwards. Studies that explored factors contributing to PPD, the impact …

Modified Frailty Index Associates With Transoral Robotic Surgery Complications And Survival: A National Database Study, Amiti Jain, Zachary N. Goldberg, Erin Briggs, Dev R. Amin, Zachary D. Urdang, Richard A. Goldman, David M. Cognetti, Joseph M. Curry

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

OBJECTIVE: The modified frailty index (mFI-5) is a National Surgical Quality Improvement Program-derived 5-factor index that has been proven to reflect frailty and predict morbidity and mortality. We hypothesize that mFI-5 is a valid predictive measure in the transoral robotic surgery (TORS) population.

METHODS: Retrospective study utilizing the TriNetX US-collaborative health records network querying for TORS patients. Cohorts were stratified by mFI-5 score which uses five ICD-10 codes: nonindependent functional status, hypertension, obstructive respiratory disease, heart failure, and diabetes mellitus. Cohorts were matched by age using propensity score matching. Outcome measures included survival, infection, pneumonia, tracheostomy dependence, and percutaneous endoscopic …

Primary Anastomosis With Diverting Loop Ileostomy Vs. Hartmann's Procedure For Acute Diverticulitis: What Happens After Discharge? Results Of A Nationwide Analysis, Arturo J. Rios Diaz, Lisa A. Bevilacqua, Theodore E. Habarth-Morales, Alicja Zalewski, David Metcalfe, Caitlyn Costanzo, Charles J. Yeo, Francesco Palazzo

Department of Surgery Faculty Papers

BACKGROUND: Current guidelines recommend resection with primary anastomosis with diverting loop ileostomy over Hartmann's procedure if deemed safe for acute diverticulitis. The primary objective of the current study was to compare the utilization of these strategies and describe nationwide ostomy closure patterns and readmission outcomes within 1 year of discharge.

METHODS: This was a retrospective, population-based, cohort study of United States Hospitals reporting to the Nationwide Readmissions Database from January 2011 to December 2019. There were 35,774 patients identified undergoing non-elective primary anastomosis with diverting loop ileostomy or Hartmann's procedure for acute diverticulitis. Rates of ostomy closure, unplanned readmissions, and …

Screening For Lung Cancer: 2023 Guideline Update From The American Cancer Society, Andrew M. D. Wolf, Kevin C. Oeffinger, Tina Ya-Chen Shih, Louise C. Walter, Timothy R. Church, Elizabeth T. H. Fontham, Elena B. Elkin, Ruth D. Etzioni, Carmen E. Guerra, Rebecca B. Perkins, Karli K. Kondo, Tyler B. Kratzer, Deanna Manassaram-Baptiste, William L. Dahut, Robert A. Smith

School of Public Health Faculty Publications

Lung cancer is the leading cause of mortality and person-years of life lost from cancer among US men and women. Early detection has been shown to be associated with reduced lung cancer mortality. Our objective was to update the American Cancer Society (ACS) 2013 lung cancer screening (LCS) guideline for adults at high risk for lung cancer. The guideline is intended to provide guidance for screening to health care providers and their patients who are at high risk for lung cancer due to a history of smoking. The ACS Guideline Development Group (GDG) utilized a systematic review of the LCS …

Patient Perspectives On Noninvasive Prenatal Testing Among Black Women In The United States: A Scoping Review, Shameka P. Thomas, Madison A. Keller, Tiara Ranson, Rachele E. Willard

School of Medicine Faculty Publications

Advances in reproductive health technologies such as noninvasive prenatal testing (NIPT) are changing the landscape of prenatal care and maternal health. NIPT, made clinically available in the United States (US) in 2011, is a screening test that utilizes cell-free DNA (cfDNA) to detect for aneuploidies and genetic characteristics in fetal DNA. In September 2020, the American College of Obstetricians and Gynecologists (ACOG) recommended NIPT for all pregnant patients regardless of age or risk factors. We examined peer-reviewed, empirical studies published from January 2011 to February 2022, assessing NIPT studies with patient perspectives in the US and what is known about …

Experiences Of Veterans With Ptsd And Sud In An Outpatient Setting, Andrew Breault, Hannah Shifflett-Kohler

Thinking Matters Symposium Archive

In 2014, there were approximately 7.9 million adults in the United States with co-occurring Post Traumatic Stress Disorder (PTSD) and Substance Use Disorders (SUD) (SAMHSA, 2014). Of the veterans who served in the conflicts in Iraq and Afghanistan alone, 30% of those in SUD treatment also meet the criteria for PTSD (Seal et al, 2008, pp. 476). Furthermore, statistics show that about 20 Veterans in the United States complete suicide daily (Spiva, 2019, p. 8). The Department of Veterans Affairs is urgently seeking successful approaches to addressing the high incidence of suicides among all veterans along with the low retention …

Newborn Sequencing In Genomic Medicine And Public Health., Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner, Amy M. Brower, Julie A. Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen, Robert J. Currier, Dmitry Dukhovny, Robert C. Green, Julie Harris-Wai, Ingrid A. Holm, Brenda Iglesias, Galen Joseph, Stephen F. Kingsmore, Barbara A. Koenig, Pui-Yan Kwok, John Lantos, J Steven Leeder, Megan A. Lewis, Amy L. Mcguire, Laura V. Milko, Sean D. Mooney, Richard B. Parad, Stacey Pereira, Josh E. Petrikin, Bradford C. Powell, Cynthia M. Powell, Jennifer M. Puck, Heidi L. Rehm, Neil Risch, Myra Roche, Joseph T. Shieh, Narayanan Veeraraghavan, Michael S. Watson, Laurel K. Willig, Timothy W. Yu, Tiina Urv, Anastasia L. Wise

Manuscripts, Articles, Book Chapters and Other Papers

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing …

Family Strategies To Support Siblings Of Pediatric Hematopoietic Stem Cell Transplant Patients., Taylor E. White, Kristopher A. Hendershot, Margie D. Dixon, Wendy Pelletier, Ann Haight, Kristin Stegenga, Melissa A. Alderfer, Lydia Cox, Jeffrey M. Switchenko, Pamela Hinds, Rebecca D. Pentz

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To describe the strategies families report using to address the needs and concerns of siblings of children, adolescents, and young adults undergoing hematopoietic stem cell transplant (HSCT).

METHODS: A secondary semantic analysis was conducted of 86 qualitative interviews with family members of children, adolescents, and young adults undergoing HSCT at 4 HSCT centers and supplemented with a primary analysis of 38 additional targeted qualitative interviews (23 family members, 15 health care professionals) conducted at the primary center. Analyses focused on sibling issues and the strategies families use to address these issues.

RESULTS: The sibling issues identified included: (1) feeling …

The Genomic Cds Sandbox: An Assessment Among Domain Experts., Ayesha Aziz, Kensaku Kawamoto, Karen Eilbeck, Marc S Williams, Robert R Freimuth, Mark A Hoffman, Luke V Rasmussen, Casey L Overby, Brian H Shirts, James M Hoffman, Brandon M Welch

Manuscripts, Articles, Book Chapters and Other Papers

Genomics is a promising tool that is becoming more widely available to improve the care and treatment of individuals. While there is much assertion, genomics will most certainly require the use of clinical decision support (CDS) to be fully realized in the routine clinical setting. The National Human Genome Research Institute (NHGRI) of the National Institutes of Health recently convened an in-person, multi-day meeting on this topic. It was widely recognized that there is a need to promote the innovation and development of resources for genomic CDS such as a CDS sandbox. The purpose of this study was to evaluate …

Clinical Outcomes Of Splenectomy In Children: Report Of The Splenectomy In Congenital Hemolytic Anemia Registry., Henry E. Rice, Brian R. Englum, Jennifer Rothman, Sarah Leonard, Audra Reiter, Courtney Thornburg, Mary Brindle, Nicola Wright, Matthew M. Heeney, Charles Smithers, Rebeccah L. Brown, Theodosia Kalfa, Jacob C. Langer, Michaela Cada, Keith T. Oldham, J Paul Scott, Shawn D. St Peter, Mukta Sharma, Andrew M. Davidoff, Kerri Nottage, Kathryn Bernabe, David B. Wilson, Sanjeev Dutta, Bertil Glader, Shelley E. Crary, Melvin S. Dassinger, Levette Dunbar, Saleem Islam, Manjusha Kumar, Fred Rescorla, Steve Bruch, Andrew Campbell, Mary Austin, Robert Sidonio, Martin L Blakely, Splenectomy In Congenital Hemolytic Anemia (Sicha) Consortium

Manuscripts, Articles, Book Chapters and Other Papers

The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005 to 2013 at 16 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. We analyzed demographics and baseline clinical status, operative details, and outcomes at 4, 24, and 52 weeks after surgery. Results were summarized as hematologic outcomes, short-term adverse events (AEs) (≤30 days after surgery), and long-term AEs (31-365 days after surgery). For children with hereditary spherocytosis, …

Factors Impacting Echocardiographic Imaging After The Fontan Procedure: A Report From The Pediatric Heart Network Fontan Cross-Sectional Study., Richard V. Williams, Renee Margossian, Minmin Lu, Andrew M. Atz, Timothy J. Bradley, Michael Jay Campbell, Steven D. Colan, Dianne Gallagher, Wyman W. Lai, Gail D. Pearson, Ashwin Prakash, Girish S. Shirali, Meryl S. Cohen, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Echocardiographic image quality in Fontan survivors may be limited by a variety of factors. We sought to describe echocardiographic quality and factors associated with study quality in subjects participating in the Pediatric Heart Network Fontan Cross-Sectional Study. Echocardiograms were obtained at 7 clinical sites using a standard protocol. Quality grading and analysis were performed by a core laboratory. Univariate and multivariable modeling were performed to assess factors associated with quality and ability to obtain images sufficient for prespecified quantitative analysis. A total of 543 echocardiograms were obtained. The quality of echocardiograms improved over the duration of the study. The great …