Open Access. Powered by Scholars. Published by Universities.®
- Institution
-
- The Texas Medical Center Library (18797)
- Thomas Jefferson University (8437)
- Aga Khan University (7545)
- Children's Mercy Kansas City (2714)
- University of Kentucky (2709)
-
- HCA Healthcare (2501)
- Henry Ford Health (2152)
- Zucker School of Medicine at Hofstra/Northwell (2014)
- Providence (1488)
- Himmelfarb Health Sciences Library, The George Washington University (1049)
- Lehigh Valley Health Network (1032)
- Old Dominion University (963)
- Corewell Health (939)
- Rowan University (913)
- LSU Health New Orleans (868)
- Philadelphia College of Osteopathic Medicine (865)
- University of Nebraska Medical Center (860)
- Universitas Indonesia (779)
- University of Texas Rio Grande Valley (744)
- Western University (600)
- Gdansk University of Physical Education and Sport (581)
- Wayne State University (580)
- OhioHealth (576)
- University of Texas MD Anderson Cancer Center (549)
- Wright State University (526)
- Virginia Commonwealth University (521)
- General Organization of Teaching Hospitals and Institutes (GOTHI) (514)
- Edith Cowan University (501)
- University of Nebraska - Lincoln (493)
- Marshall University (464)
- Keyword
-
- Humans (15240)
- Female (6819)
- Male (5946)
- Animals (4296)
- Adult (3294)
-
- Middle Aged (3040)
- Mice (2959)
- Aged (2680)
- Child (2177)
- Adolescent (1674)
- Retrospective Studies (1633)
- COVID-19 (1561)
- United States (1499)
- Treatment Outcome (1365)
- Neoplasms (1180)
- Infant (1085)
- Tumor (1055)
- Risk Factors (1007)
- Pregnancy (992)
- Biomarkers (969)
- Young Adult (969)
- Cancer (896)
- Child, Preschool (868)
- Mutation (866)
- Prospective Studies (852)
- Thomas Jefferson University (812)
- Cell Line (802)
- Carcinoma (795)
- Immunotherapy (771)
- Cell Line, Tumor (744)
- Publication Year
- Publication
-
- Faculty, Staff and Student Publications (10066)
- Faculty, Staff and Students Publications (7040)
- Henry Ford Hospital Medical Journal (2151)
- Journal Articles (2016)
- Manuscripts, Articles, Book Chapters and Other Papers (1319)
-
- Articles, Abstracts, and Reports (858)
- Posters (825)
- Rowan-Virtua Research Day (730)
- Department of Medicine (691)
- Pakistan Journal of Neurological Sciences (PJNS) (684)
- Pediatrics Faculty Publications (680)
- School of Medicine Faculty Publications (633)
- Conference Presentation Abstracts (602)
- Baltic Journal of Health and Physical Activity (581)
- Department of Paediatrics and Child Health (571)
- Department of Pathology and Laboratory Medicine (554)
- Journal of Medicine in Scientific Research (514)
- Research Days (488)
- Markey Cancer Center Faculty Publications (482)
- Jurnal Penyakit Dalam Indonesia (431)
- Children’s Nutrition Research Center Staff Publications (429)
- Jefferson Journal of Psychiatry (426)
- The Texas Heart Institute Journal (419)
- Department of Neurology Faculty Papers (386)
- Journal of the Saudi Heart Association (368)
- Department of Medicine Faculty Papers (362)
- Paediatrics Publications (359)
- Loma Linda University Electronic Theses, Dissertations & Projects (346)
- Obstetrics and Gynaecology, East Africa (346)
- Journal of Patient-Centered Research and Reviews (344)
- Publication Type
Articles 3991 - 4020 of 77232
Full-Text Articles in Entire DC Network
Vitamin D Status During Pregnancy Modulates The Effect Of Pre-Pregnancy Obesity On Gestational Diabetes Mellitus Risk: A Birth Cohort Study, Ali H. Ziyab, Abdullah Al-Taiar, Reem Al-Sabah, Majeda S. Hammoud, Saeed Akhtar
Vitamin D Status During Pregnancy Modulates The Effect Of Pre-Pregnancy Obesity On Gestational Diabetes Mellitus Risk: A Birth Cohort Study, Ali H. Ziyab, Abdullah Al-Taiar, Reem Al-Sabah, Majeda S. Hammoud, Saeed Akhtar
Epidemiology, Biostatistics, & Environmental Health Faculty Publications
Objective:
To determine whether gestational vitamin D status modulates the effect of pre-pregnancy obesity on gestational diabetes mellitus (GDM) risk while stratifying by maternal age.
Design:
Birth cohort.
Setting:
A major maternity hospital in Kuwait.
Participants:
Pregnant women in their second/third trimester of gestation were enrolled. Pre-pregnancy body mass index (BMI, kg/m²) was categorized as under/normal weight (< 25.0), overweight (25.0 to < 30.0), and obesity (≥30.0). Gestational 25-hydroxyvitamin D concentrations were categorized as deficiency (< 50 nmol/L) or insufficiency/sufficiency (≥50 nmol/L). GDM status was ascertained according to international guidelines. Adjusted odds ratios (aOR) and 95% confidence intervals (CI) were estimated using logistic regression.
Results:
Data from 957 pregnant women were analyzed, with GDM affecting 166 (17.4%) pregnancies. Pre-pregnancy obesity and gestational vitamin D deficiency was ascertained in 275 (28.7%) and 533 (55.7%) pregnant women, respectively. The association between pre-pregnancy obesity and GDM risk differed according …
Will They Be More Honest With An (External) Proctor? Evaluating Ufc Match Performance Before And After The Adoption Of The Usada Doping Program, Moonsup Hyun, Wonsok (Frank) Jee, Sehwon Kang, Yohan Lee
Will They Be More Honest With An (External) Proctor? Evaluating Ufc Match Performance Before And After The Adoption Of The Usada Doping Program, Moonsup Hyun, Wonsok (Frank) Jee, Sehwon Kang, Yohan Lee
Human Movement Studies & Special Education Faculty Publications
Over the eight years from 2015 to 2023, the Ultimate Fighting Championship (UFC) partnered with the United States Anti-Doping Agency (USADA) to institute comprehensive external oversight of doping controls. This study investigates the effects of transitioning from internally administered anti-doping protocols to exclusive external governance by comparing UFC performance metrics before and during the USADA partnership. Using a Difference-in-Differences (DiD) approach with data from 2012 to 2018, we find that match duration significantly increased, while the likelihood of extreme outcomes, knockouts (KO), technical knockouts (TKO), and submissions, decreased during the USADA period. These results suggest that performance-enhancing drugs (PEDs) could …
Integrating Self-Determination Theory And Continuous Glucose Monitoring: Promoting Youth Development Among Campers With Type 1 Diabetes, Eddie Hill, Bethany Arrington, Taylor Harvey, Alexis Barmoh, Rowan Williams, Laura Hill
Integrating Self-Determination Theory And Continuous Glucose Monitoring: Promoting Youth Development Among Campers With Type 1 Diabetes, Eddie Hill, Bethany Arrington, Taylor Harvey, Alexis Barmoh, Rowan Williams, Laura Hill
Human Movement Studies & Special Education Faculty Publications
The purpose of this cohort study was to evaluate participants’ general self-management and experiences of autonomy while attending diabetes camp using quantitative and qualitative data collection. Through a partnership, an outdoor diabetes camp was designed to assist youth with type 1 diabetes (T1D) in their management. The REACH Teen program conducted a week-long summer camp for youth with T1D. The study was designed through Outcome-Focused Programming grounded in Self-Determination Theory (SDT) to meet campers’ needs of autonomy, competence, and relatedness. Campers participated in outdoor activities and diabetes education designed to increase healthy behaviors. Twenty-three campers completed a 24-item pre- and …
The Effects Of Physical Activity Timing And Adherence To Physical Activity Guidelines On Sleep In Children With Adhd, Xiao Liang, Mengping Zhao, Li Su, Justin A. Haegele, Richard H. Xu, Jingjing Li, Andy Choi-Yeung Tse, Shirley X. Li
The Effects Of Physical Activity Timing And Adherence To Physical Activity Guidelines On Sleep In Children With Adhd, Xiao Liang, Mengping Zhao, Li Su, Justin A. Haegele, Richard H. Xu, Jingjing Li, Andy Choi-Yeung Tse, Shirley X. Li
Human Movement Studies & Special Education Faculty Publications
Regular physical activity (PA) has been shown to benefit sleep. However, the effects of PA timing and adherence to the WHO's recommended 60-min moderate-to-vigorous physical activity (MVPA) guideline on sleep are unclear, especially for children with ADHD who often experience sleep problems. This study examined whether timing of MVPA influenced objectively measured sleep, including sleep latency (SL), sleep efficiency (SE), total sleep time (TST), and wake after sleep onset (WASO), among children with ADHD. This cross-sectional study involved 253 children with ADHD (Mage = 8.60 ± 1.31 years, 81% boys). MVPA timing was categorized as more than 8 h before …
Cervical Laminectomy For Degenerative Cervical Myelopathy: Is There A Role In The Modern Day? A Systematic Review And Meta-Analysis, Christopher S. Lozano, Armaan K. Malhotra, Husain Shakil, Vishwathsen Karthikeyan, Neevya Balasubramaniam, Uzondu Agochukwu, Ankit I. Mehta, Aditya Vedantam, C. Rory Goodwin, Nathan Evaniew, Aminul I. Ahmed, Ricardo Rodrigues-Pinto, Michael Fehlings, James S. Harrop, Shekar N. Kurpad, Jefferson R. Wilson
Cervical Laminectomy For Degenerative Cervical Myelopathy: Is There A Role In The Modern Day? A Systematic Review And Meta-Analysis, Christopher S. Lozano, Armaan K. Malhotra, Husain Shakil, Vishwathsen Karthikeyan, Neevya Balasubramaniam, Uzondu Agochukwu, Ankit I. Mehta, Aditya Vedantam, C. Rory Goodwin, Nathan Evaniew, Aminul I. Ahmed, Ricardo Rodrigues-Pinto, Michael Fehlings, James S. Harrop, Shekar N. Kurpad, Jefferson R. Wilson
Department of Neurosurgery Faculty Papers
Study DesignSystematic Review and Meta-Analysis.ObjectivesTo compare clinical outcomes in degenerative cervical myelopathy (DCM) patients treated with laminectomy alone (LA) vs laminectomy with fusion (LF) and determine post-laminectomy kyphosis incidence.MethodsWe searched PubMed, Scopus, Embase, Web of Science, and MEDLINE from inception-September 2024 for studies comparing LA and LF for DCM. Outcomes assessed included post-laminectomy kyphosis, neurological recovery outcomes, patient-reported outcomes (PROs), and complication rates. Meta-analyses were performed using random-effects models.ResultsTwenty-seven studies including 3286 patients (2272 LA and 1014 LF), met the inclusion criteria. The pooled incidence of post-laminectomy kyphosis in the LA patients was 2.02 events per 100 person-years (95% CI: …
Conventional Versus Advanced Imaging Selection For Endovascular Treatment Of Basilar Artery Occlusion Strokes., Huanwen Chen, Marco Colasurdo, Hidetoshi Matsukawa, Conor Cunningham, Ilko Maier, Sami Al Kasab, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M. Starke, Marios-Nikos Psychogios, Edgar A. Samaniego, Nitin Goyal, Shinichi Yoshimura, Hugo Cuellar, Jonathan A. Grossberg, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G. Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S. Park, Michael R. Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Ergun Daglioglu, Richard Williamson, Pedro Navia, Reade De Leacy, Shakeel Chowdhry, David J. Altschul, Alejandro M. Spiotta, Peter Kan
Conventional Versus Advanced Imaging Selection For Endovascular Treatment Of Basilar Artery Occlusion Strokes., Huanwen Chen, Marco Colasurdo, Hidetoshi Matsukawa, Conor Cunningham, Ilko Maier, Sami Al Kasab, Pascal Jabbour, Joon-Tae Kim, Stacey Quintero Wolfe, Ansaar Rai, Robert M. Starke, Marios-Nikos Psychogios, Edgar A. Samaniego, Nitin Goyal, Shinichi Yoshimura, Hugo Cuellar, Jonathan A. Grossberg, Ali Alawieh, Ali Alaraj, Mohamad Ezzeldin, Daniele G. Romano, Omar Tanweer, Justin Mascitelli, Isabel Fragata, Adam Polifka, Fazeel Siddiqui, Joshua Osbun, Roberto Crosa, Charles Matouk, Min S. Park, Michael R. Levitt, Waleed Brinjikji, Mark Moss, Travis Dumont, Ergun Daglioglu, Richard Williamson, Pedro Navia, Reade De Leacy, Shakeel Chowdhry, David J. Altschul, Alejandro M. Spiotta, Peter Kan
Department of Medicine Faculty Papers
INTRODUCTION: Endovascular thrombectomy (EVT) is an effective treatment for basilar artery occlusion (BAO) stroke in select patients. While there is a growing body of literature suggesting that advanced imaging modalities such as computed tomography perfusion (CTP) and magnetic resonance (MR) may not be necessary for selecting anterior circulation large vessel occlusion stroke patients for EVT, whether advanced imaging may be superior to conventional imaging (non-contrast CT and CT angiography) in identifying good treatment candidates among BAO patients is less clear.
PATIENTS AND METHODS: This was a multicenter retrospective cohort study of BAO EVT patients treated from 2013 to 2022 in …
Insulinemic And Inflammatory Dietary Patterns And Colorectal Cancer Risk: A Dietary Data Harmonization Study Of One Million Participants In The Consortium Of Metabolomics Studies (Comets), Ni Shi, Rachel Hoobler, Rhea Harewood, Amanda E Toland, Demetrius Albanes, Emmanouil Bouras, Marc J Gunter, Linda M Liao, Steven C Moore, Fulvio Ricceri, Jerome I Rotter, Rashmi Sinha, Rachael Stolzenberg-Solomon, Anne Tjønneland, Alexis C Wood, Danxia Yu, Mary C Playdon, Fred K Tabung
Insulinemic And Inflammatory Dietary Patterns And Colorectal Cancer Risk: A Dietary Data Harmonization Study Of One Million Participants In The Consortium Of Metabolomics Studies (Comets), Ni Shi, Rachel Hoobler, Rhea Harewood, Amanda E Toland, Demetrius Albanes, Emmanouil Bouras, Marc J Gunter, Linda M Liao, Steven C Moore, Fulvio Ricceri, Jerome I Rotter, Rashmi Sinha, Rachael Stolzenberg-Solomon, Anne Tjønneland, Alexis C Wood, Danxia Yu, Mary C Playdon, Fred K Tabung
Children’s Nutrition Research Center Staff Publications
Background: Inflammatory and insulinemic dietary patterns have been associated with colorectal cancer (CRC) risk, but generalizability across diverse populations with heterogeneous food supplies and dietary behaviors has not been established.
Objectives: We harmonized disparate dietary and covariate data on a large scale to compute the reverse Empirical Dietary Index for Hyperinsulinemia (rEDIH), reverse Empirical Dietary Inflammatory Pattern (rEDIP), and Healthy Eating Index (HEI)-2015 scores, and tested their associations with CRC risk.
Methods: We leveraged data among 501,892 women and 407,390 men from 6 cohorts across the United States (NIH-AARP, Multi-Ethnic Study of Atherosclerosis, Prostate, Lung, Colorectal, and Ovarian, SCCS) and …
Creating Community Through Walking The Talk For Dementia, Kate Irving, Fernando Aguzzoli Peres, Walter D. Dawson, Jonathan Adrián Zegarra-Valdivia, Lingani Mbakile-Mahlanza, Iracema Leroi, Sherril B. Gelmon
Creating Community Through Walking The Talk For Dementia, Kate Irving, Fernando Aguzzoli Peres, Walter D. Dawson, Jonathan Adrián Zegarra-Valdivia, Lingani Mbakile-Mahlanza, Iracema Leroi, Sherril B. Gelmon
Institute on Aging Publications
Objectives
Creating community is not only therapeutic—it has been described as essential. This study explores a process of community-building among people with lived and professional experience in the dementia field, during Walking the Talk for Dementia (WTD), a week-long, immersive event on the Camino de Santiago in Spain. Absence of community can lead to fragmented support for both people living with dementia and their care partners and for those working in the field. Achieving a sense of community, however, can be complex.
Methods
A qualitative evaluation was conducted with 79 participants from 27 countries, incorporating pre-, during and post-event reflections. …
Polyfluoroalkyl Substances And Altered Glucose Homeostasis In Adolescents Following Bariatric Surgery, Elizabeth Costello, Brittney O Baumert, Zhenjiang Li, Vishal Midya, Shudi Pan, Justin R Ryder, Thomas H Inge, Todd M Jenkins, Stephanie Sisley, Stavra A Xanthakos, Anita Courcoulas, Douglas I Walker, Nikos Stratakis, Damaskini Valvi, Scott M Bartell, Angela L Slitt, Rohit Kohli, Sarah Rock, Michele A La Merrill, Sandrah P Eckel, Max T Aung, Rob Mcconnell, David V Conti, Lida Chatzi
Polyfluoroalkyl Substances And Altered Glucose Homeostasis In Adolescents Following Bariatric Surgery, Elizabeth Costello, Brittney O Baumert, Zhenjiang Li, Vishal Midya, Shudi Pan, Justin R Ryder, Thomas H Inge, Todd M Jenkins, Stephanie Sisley, Stavra A Xanthakos, Anita Courcoulas, Douglas I Walker, Nikos Stratakis, Damaskini Valvi, Scott M Bartell, Angela L Slitt, Rohit Kohli, Sarah Rock, Michele A La Merrill, Sandrah P Eckel, Max T Aung, Rob Mcconnell, David V Conti, Lida Chatzi
Children’s Nutrition Research Center Staff Publications
Objectives: Bariatric surgery is an effective treatment for severe obesity and associated metabolic comorbidities. Exposure to polyfluoroalkyl substance (PFAS) before bariatric surgery may attenuate improvements in glucose metabolism and explain some of the heterogeneity in post-surgery outcomes.
Design: This is an observational cohort study.
Methods: Adolescents (n = 186) enrolled in the Teen-Longitudinal Assessment of Bariatric Surgery study were included. Eight-PFAS congeners were measured in plasma before surgery. Linear and logistic regressions were used to examine cross-sectional associations between log2-transformed PFAS (ng/mL) and fasting glucose, insulin, hemoglobin A1c (HbA1c), and homeostatic model assessment for insulin resistance (HOMA-IR). Linear mixed …
Alternative Polyadenylation Signatures Distinguish Maladaptive Right Ventricular Remodeling In Pulmonary Hypertension: Implications For Rna-Based Diagnostics And Therapeutics, Janani Subramaniam, Venkata Jonnakuti, Scott D Collum, Sandra Martineau, Kai-Lieh Huang, Sandra Breuils-Bonnet, Andrea L Frump, Bindu H Akkanti, Jayeshkumar A Patel, Manish K Patel, Ismael Salas De Armas, Isabella N Lefebvre, Rajko Radovancevic, Elvin Blanco, Eric J Wagner, Igor Gregoric, Sriram Nathan, Biswajit Kar, Steeve Provencher, Sebastien Bonnet, François Potus, Hari Krishna Yalamanchili, Harry Karmouty-Quintana
Alternative Polyadenylation Signatures Distinguish Maladaptive Right Ventricular Remodeling In Pulmonary Hypertension: Implications For Rna-Based Diagnostics And Therapeutics, Janani Subramaniam, Venkata Jonnakuti, Scott D Collum, Sandra Martineau, Kai-Lieh Huang, Sandra Breuils-Bonnet, Andrea L Frump, Bindu H Akkanti, Jayeshkumar A Patel, Manish K Patel, Ismael Salas De Armas, Isabella N Lefebvre, Rajko Radovancevic, Elvin Blanco, Eric J Wagner, Igor Gregoric, Sriram Nathan, Biswajit Kar, Steeve Provencher, Sebastien Bonnet, François Potus, Hari Krishna Yalamanchili, Harry Karmouty-Quintana
Faculty, Staff and Student Publications
Increased pulmonary vascular pressures due to vascular remodeling, elevated vascular resistance, and vasoconstriction characterize Pulmonary Arterial Hypertension (PAH). The narrowing of the pulmonary arteries and obstruction of blood flow increase the Right Ventricular (RV) afterload, forcing the RV to undergo structural and functional changes. While adaptive remodeling leads to RV compensation by maintaining function, maladaptive remodeling leads to RV decompensation, characterized by worsening function and eventual failure. At present, there is no effective treatment for these patients as therapies for left ventricular failure are ineffectual, and there are no therapies specifically targeting the RV. Therefore, there is a clear need …
Test-Retest Apparent Diffusion Coefficient Reproducibility In Head And Neck Cancer Using A 15-T Mr-Linac, Brigid A Mcdonald, Dina El-Habashy, Renjie He, Sam Mulder, Sarah Mirbahaeddin, Abdallah S R Mohamed, Sara Ahmed, Yao Ding, Jihong Wang, Stephen Y Lai, Alex Dresner, John Christodouleas, Clifton D Fuller
Test-Retest Apparent Diffusion Coefficient Reproducibility In Head And Neck Cancer Using A 15-T Mr-Linac, Brigid A Mcdonald, Dina El-Habashy, Renjie He, Sam Mulder, Sarah Mirbahaeddin, Abdallah S R Mohamed, Sara Ahmed, Yao Ding, Jihong Wang, Stephen Y Lai, Alex Dresner, John Christodouleas, Clifton D Fuller
Faculty, Staff and Student Publications
Purpose
To evaluate the reproducibility of apparent diffusion coefficient (ADC) measurements in head and neck squamous cell carcinoma (HNSCC) using a 1.5-T MR-linac (MRI-guided linear accelerator) system.
Materials and Methods
In this retrospective study, conducted between February 2021 and January 2024, patients with HNSCC lesions underwent echo-planar imaging diffusion-weighted MRI on a 1.5-T MR-linac system at two time points before the start of radiation therapy. Mean and median ADC values and volumes were measured for each lesion. Absolute and percent reproducibility coefficients (RCs) were calculated. Linear regression analyses and F tests were performed to determine whether the lesion volume or …
Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group
Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group
Duncan NRI Faculty and Staff Publications
Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.
Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.
Results: Between …
Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe
Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe
Duncan NRI Faculty and Staff Publications
Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.
Psychometric Properties Of A Novel Affective Bias Task And Its Application In Clinical And Nonclinical Populations, Prathik Kalva, Kourtney Kanja, Brian A Metzger, Xiaoxu Fan, Brian Cui, Bailey Pascuzzi, John Magnotti, Madaline Mocchi, Raissa Mathura, Kelly R Bijanki
Psychometric Properties Of A Novel Affective Bias Task And Its Application In Clinical And Nonclinical Populations, Prathik Kalva, Kourtney Kanja, Brian A Metzger, Xiaoxu Fan, Brian Cui, Bailey Pascuzzi, John Magnotti, Madaline Mocchi, Raissa Mathura, Kelly R Bijanki
Faculty, Staff and Students Publications
To mitigate limitations in self-reported mood assessments, we introduce a novel affective bias task (ABT). The task quantifies instantaneous emotional state by leveraging the phenomenon of affective bias, in which people interpret external emotional stimuli in a manner consistent with their current emotional state. This study establishes task stability in measuring and tracking depressive symptoms in clinical and non-clinical populations. Initial assessment in a large non-clinical sample established normative ratings. Depressive symptoms were tracked relative to task performance in a non-clinical sample, as well as in a clinical cohort undergoing surgical evaluation for severe epilepsy. In both cohorts, a stronger …
Prevalence Of Clinically Relevant Nightmares And Their Differences By Sex And Diagnosis In Psychiatric Inpatients, Katrina A Rufino, Michelle A Patriquin, Courtney B Worley, Michael R Nadorff
Prevalence Of Clinically Relevant Nightmares And Their Differences By Sex And Diagnosis In Psychiatric Inpatients, Katrina A Rufino, Michelle A Patriquin, Courtney B Worley, Michael R Nadorff
Faculty, Staff and Students Publications
Nightmares have been shown to be associated with numerous forms of psychopathology, but the vast majority of this research has taken place in the general population and very little is known about their relation with psychopathology in those requiring inpatient hospitalization. In a sample of 1170 voluntarily admitted psychiatric inpatients, this study explores the frequency of reported nightmares in psychiatric inpatients with the aim of examining the prevalence of psychiatric diagnosis in those with and without clinically relevant nightmares. Participants completed the Disturbing Dream and Nightmare Severity Index (DDNSI) and the Structured Clinical Interview for DSM Disorders (SCID-5) at admission. …
Gallbladder Decompression And Hydrodissection As Adjuncts For Ablation Of Pericholecystic Hepatocellular Carcinomas, Taylor Hoffman, Arta Kasaeian, Johnathon Chung, Ashkan Berenji, David Wynne, Mohammad Ghasemi-Rad, David Léon
Gallbladder Decompression And Hydrodissection As Adjuncts For Ablation Of Pericholecystic Hepatocellular Carcinomas, Taylor Hoffman, Arta Kasaeian, Johnathon Chung, Ashkan Berenji, David Wynne, Mohammad Ghasemi-Rad, David Léon
Faculty, Staff and Students Publications
Microwave ablation is an effective treatment for hepatocellular carcinoma, but tumors adjacent to extrahepatic organs carry a higher risk for thermal injury. Thermoprotective techniques such as hydrodissection and gallbladder decompression can reduce this risk and expand the range of lesions amenable to percutaneous treatment. We present a case of a 68-year-old woman with hepatocellular carcinoma in hepatic segment V, with partial treatment response from prior transarterial chemoembolization. Due to the lesion's proximity to the gallbladder and transverse colon, microwave ablation was performed with concurrent ultrasound- and CT-guided gallbladder decompression and hydrodissection. The ablation was technically successful without post-procedural complications. At …
Tau In Alzheimer’S Disease: Shaping The Future Patient Journey, Catherine J Mummery, Christopher Chen Li-Hsian, Cristian A Lasagna-Reeves, Rik Ossenkoppele, Christopher C Rowe, Douglas W Scharre, Huali Wang, Simon Kyaga, Jeffrey L Cummings
Tau In Alzheimer’S Disease: Shaping The Future Patient Journey, Catherine J Mummery, Christopher Chen Li-Hsian, Cristian A Lasagna-Reeves, Rik Ossenkoppele, Christopher C Rowe, Douglas W Scharre, Huali Wang, Simon Kyaga, Jeffrey L Cummings
Faculty, Staff and Students Publications
Alzheimer's disease is a complex and multifactorial disease characterized by two key pathological hallmarks: amyloid-beta plaques and tau neurofibrillary tangles. Recent progress has led to the development and approval of disease-targeted therapies for Alzheimer's disease in the form of anti-amyloid-beta monoclonal antibodies. However, findings suggest that amelioration of multiple pathological drivers may be required to maximize clinical effect. An increasing body of evidence suggests that tau is a critical player in Alzheimer's disease pathophysiology, contributing significantly to neurodegeneration and cognitive decline. There are now several tau-targeting drugs in clinical development. In this review, we build on research and advancements in …
Cerebellar Deep Brain Stimulation Rescues Purkinje Cell Mitochondrial Density In A Genetic Mouse Model Of Cerebellar Ataxia, Lauren N Miterko-Myers, Lauren E Peacoe, Lita Duraine, Zhongyuan Zuo, Roy V Sillitoe
Cerebellar Deep Brain Stimulation Rescues Purkinje Cell Mitochondrial Density In A Genetic Mouse Model Of Cerebellar Ataxia, Lauren N Miterko-Myers, Lauren E Peacoe, Lita Duraine, Zhongyuan Zuo, Roy V Sillitoe
Faculty, Staff and Students Publications
Deep brain stimulation (DBS) improves motor function in a growing list of movement diseases including Parkinson's disease, dystonia, and tremor. There is evidence that DBS may also be effective in ataxia. It is not known why DBS is effective, but modulating cell activity and conferring neuroprotection are hypothesized to underlie its benefits. Understanding the effects of DBS on neurons is paramount to extending its clinical use in the treatment of various motor and non-motor diseases. Here, we stimulated the cerebellum of Car8 waddles (Car8wdl) mice, given the cerebellum's important role in ataxia pathophysiology. Using transmission electron microscopy, we tested the …
Senolytic-Resistant Senescent Cells Have A Distinct Sasp Profile And Functional Impact: The Path To Developing Senosensitizers, Utkarsh Tripathi, Masayoshi Suda, Vagisha Kulshreshtha, Bryan T Piatkowski, Allyson K Palmer, Nino Giorgadze, Christina Inman, Nathan Gasek, Ming Xu, Kurt O Johnson, Tamar Pirtskhalava, Selim Chaib, Larissa P G Langhi Prata, Yi Zhu, Renuka Kandhaya-Pillai, Stefan G Tullius, Saranya P Wyles, Rambabu Majji, Hari Krishna Yalamanchili, David B Allison, Tamar Tchkonia, James L Kirkland
Senolytic-Resistant Senescent Cells Have A Distinct Sasp Profile And Functional Impact: The Path To Developing Senosensitizers, Utkarsh Tripathi, Masayoshi Suda, Vagisha Kulshreshtha, Bryan T Piatkowski, Allyson K Palmer, Nino Giorgadze, Christina Inman, Nathan Gasek, Ming Xu, Kurt O Johnson, Tamar Pirtskhalava, Selim Chaib, Larissa P G Langhi Prata, Yi Zhu, Renuka Kandhaya-Pillai, Stefan G Tullius, Saranya P Wyles, Rambabu Majji, Hari Krishna Yalamanchili, David B Allison, Tamar Tchkonia, James L Kirkland
Faculty, Staff and Students Publications
The senescent cell (SC) fate is linked to aging, multiple disorders and diseases, and physical dysfunction. Senolytics, agents that selectively eliminate 30%-70% of SCs, act by transiently disabling the senescent cell antiapoptotic pathways (SCAPs), which defend those SCs that are proapoptotic and pro-inflammatory from their own senescence-associated secretory phenotype (SASP). Consistent with this, a JAK/STAT inhibitor, Ruxolitinib, which attenuates the pro-inflammatory SASP of senescent human preadipocytes, caused them to become "senolytic-resistant". Administering senolytics to obese mice selectively decreased the abundance of the subset of SCs that is pro-inflammatory. In cell cultures, the 30%-70% of human senescent preadipocytes or human umbilical …
Functional Analysis Of Genes Enriched In Male Reproductive Organs: Validation Via Fertility Assessment Of 14 Knockout Mouse Lines, Kazumasa Takemoto, Katarzyna Kent, Kaori Nozawa, Shingo Tonai, Ahn H Pham, Terumi Fujimoto, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa, Keizo Tokuhiro
Functional Analysis Of Genes Enriched In Male Reproductive Organs: Validation Via Fertility Assessment Of 14 Knockout Mouse Lines, Kazumasa Takemoto, Katarzyna Kent, Kaori Nozawa, Shingo Tonai, Ahn H Pham, Terumi Fujimoto, Thomas X Garcia, Martin M Matzuk, Masahito Ikawa, Keizo Tokuhiro
Faculty, Staff and Students Publications
Tissue-restricted gene expression serves as a key indicator of functional importance within specific organs. Despite advances in high-throughput sequencing and genome editing over the past decade, this principle remains the gold standard for identifying candidate genes for functional studies. In reproductive biology, testis-restricted expression is anticipated to indicate genes crucial for gametogenesis, given the conserved features shared between spermatogenesis and oogenesis. Concurrently, rapid evolution of spermatogenesis-related genes is well documented and thought to arise through duplication and subsequent mutation of ubiquitously expressed genes. In this study, we established 14 knockout (KO) mouse lines for male reproductive organ-enriched genes, all of …
A Strategy To Identify Biliary Atresia Efficiently: A Perspective From A Texas Center, Sanjiv Harpavat, Tebyan A Rabbani, Ashley M Upton, Sridevi Devaraj, Jose A Hernandez, Benjamin L Shneider
A Strategy To Identify Biliary Atresia Efficiently: A Perspective From A Texas Center, Sanjiv Harpavat, Tebyan A Rabbani, Ashley M Upton, Sridevi Devaraj, Jose A Hernandez, Benjamin L Shneider
Faculty, Staff and Students Publications
Infants with biliary atresia are often diagnosed after 60 days of life because the disease is difficult to detect in its early stages. However, infants treated before 30-45 days of life have the best long-term outcomes. To help accelerate the biliary atresia diagnosis, we have developed a streamlined strategy that involves two sequential tests: (1) direct or conjugated bilirubin measurements and (2) a feeding abdominal ultrasound exam. In this review, the strategy is shared to encourage others to provide feedback as well as to consider incorporating portions into their own clinical workflows.
Challenges In The Diagnosis Of Concurrent T-Lymphoblastic Leukemia/Lymphoma And Thymic Neuroendocrine Carcinoma: A Case Report, Kristen Oliveira, Mary Doan, Ying Pei, Marwan Yared, Songlin Zhang
Challenges In The Diagnosis Of Concurrent T-Lymphoblastic Leukemia/Lymphoma And Thymic Neuroendocrine Carcinoma: A Case Report, Kristen Oliveira, Mary Doan, Ying Pei, Marwan Yared, Songlin Zhang
Faculty, Staff and Students Publications
The co-occurrence of T-lymphoblastic leukemia/lymphoma and thymic neoplasia is a rare event that can present a diagnostic challenge. In this case report, we describe a 31-year-old man who was found to have thymic neuroendocrine carcinoma and T-lymphoblastic leukemia/lymphoma 2 years after initial treatment for T-lymphoblastic leukemia/lymphoma. The thymic neuroendocrine carcinoma was initially detected in a malignant pleural effusion, and a retrospective review of a preceding lung biopsy suggested the involvement of both tumors within one tissue sample. Immunohistochemical analysis was imperative in highlighting these two elements because despite their unique cytomorphological characteristics, a limited amount of each component was seen …
Developing And Evaluating A Young Adult Peer Mentor Training Program, Beth H Garland, Demonica L Jones, Cassandra J Enzler, Jean L Raphael, Albert C Hergenroeder, Rachel S Wolfe, Sarah C Graham, Constance M Wiemann
Developing And Evaluating A Young Adult Peer Mentor Training Program, Beth H Garland, Demonica L Jones, Cassandra J Enzler, Jean L Raphael, Albert C Hergenroeder, Rachel S Wolfe, Sarah C Graham, Constance M Wiemann
Faculty, Staff and Students Publications
Improving self-management skills for adolescents and emerging adults (AEA) with chronic health conditions is critical for successful transition to adult-based care. Peer-mentoring has been effective in improving the self-management skills of AEA. However, the components of training a successful young adult peer mentors (YAPM), especially interpersonal aspects of the role, such as communication skills and navigating mentee ambivalence are not well understood. This descriptive study created and pilot-tested a training curriculum for YAPM as part of a larger study to build self-management skills in the context of healthcare transition from pediatric to adult care. Five YAPM completed the training curriculum. …
Integrating A Project-Based Learning Methodology Into A Department-Wide Quality Improvement Curriculum: A Nine-Year Experience In Pediatric Subspecialty Training, Venessa Lynn Pinto, Danny Castro, Constance M Wiemann, Liza Bonin, Cagri Yildirim-Toruner, Nicholas A Ettinger, Sharada Hiranya Gowda, Joyee Vachani, Mehmet Fatih Okcu
Integrating A Project-Based Learning Methodology Into A Department-Wide Quality Improvement Curriculum: A Nine-Year Experience In Pediatric Subspecialty Training, Venessa Lynn Pinto, Danny Castro, Constance M Wiemann, Liza Bonin, Cagri Yildirim-Toruner, Nicholas A Ettinger, Sharada Hiranya Gowda, Joyee Vachani, Mehmet Fatih Okcu
Faculty, Staff and Students Publications
Background: Quality improvement (QI) training of subspecialty fellows is an essential component of graduate medical education, yet often delivered in silos within departments through a variety of instructional methodologies.
Objective: We applied project-based learning (PjBL) as a guiding methodology for a QI curriculum for pediatric subspecialty fellows and describe our curriculum development, instructional design, and its implementation.
Methods: We integrated the Institute for Healthcare Improvement (IHI) Model for Improvement with the 6 key features of PjBL: a driving question, defined learning goals, active participation in educational tasks, collaboration among learners, scaffolding with learning technology, and production of tangible artifacts. The …
When Targeted Gene Testing Falls Short: Case Report Of A Novel Slc4a3 F347s Genetic Variant Associated With Short Qt Syndrome, Chelsea A Boyd, Tyler J Novy, Taylor A Beecroft-Dawson, Connor A Bell, Emily M Bland, Christina Y Miyake
When Targeted Gene Testing Falls Short: Case Report Of A Novel Slc4a3 F347s Genetic Variant Associated With Short Qt Syndrome, Chelsea A Boyd, Tyler J Novy, Taylor A Beecroft-Dawson, Connor A Bell, Emily M Bland, Christina Y Miyake
Faculty, Staff and Students Publications
No abstract provided.
The Lived Experience Of Pediatric Pain Management: Insights From Families And Providers, Samrithaa Balakrishnan, Annesha Dey, Aarti Bavare, Paul Checchia, Katherine Shwetz, Natasha Afonso
The Lived Experience Of Pediatric Pain Management: Insights From Families And Providers, Samrithaa Balakrishnan, Annesha Dey, Aarti Bavare, Paul Checchia, Katherine Shwetz, Natasha Afonso
Faculty, Staff and Students Publications
Pain represents a subjective experience that manifests with emotional and physical discomfort. In pediatric care, pain management is especially complex due to communicative limitations, which creates a unique point of entry for parents to contribute to their child's treatment process. In this study, we explored whether families' perceptions of their child's pain and preferences for treatment were aligned with healthcare providers' pain management decisions. Using narrative-informed techniques in interviews with families and healthcare providers in pediatric care settings, we analyzed areas of concordance and discordance in pain assessment and treatment priorities. Our findings show that trust is built over time …
Point-Of-Care Ultrasound Foundations In Physics And Image Acquisition: An Innovative Hands-On Active Learning Workshop, Cherie Tator, Saul Flores, Alan Riley, Kiyetta Alade
Point-Of-Care Ultrasound Foundations In Physics And Image Acquisition: An Innovative Hands-On Active Learning Workshop, Cherie Tator, Saul Flores, Alan Riley, Kiyetta Alade
Faculty, Staff and Students Publications
Introduction: We developed an innovative, active learning workshop to introduce foundations of point-of-care ultrasound (POCUS) physics and instrumentation. The workshop design aimed to reduce cognitive load and encourage learner-centered engagement through hands-on exploration that reinforces key principles and connects theory to practice.
Methods: First-year medical students participated in small-group, student-driven exercises to explore POCUS machine controls, transducers, and image acquisition skills. Each group was supported by a faculty member to guide activities and ensure accuracy. Students scanned pickles, hard-boiled eggs, and olives with pits; these items were selected for their low cost, sonographic characteristics, and recognizability. Later in the semester, …
Pd-L1-Centric Whole Blood-Based Immune Signature Profiles Of Tuberculosis Patients During Therapy, Johanna Eggeling, Martina Sester, Christoph Lange, Jan Heyckendorf, Barbara Kalsdorf, Anna M Mandalakas, Andrew R Dinardo, David Lewinsohn, Dagmar Schaub, Tina Schmidt, Eva Tolosa, Maja Reimann, Patricia M Sánchez Carballo
Pd-L1-Centric Whole Blood-Based Immune Signature Profiles Of Tuberculosis Patients During Therapy, Johanna Eggeling, Martina Sester, Christoph Lange, Jan Heyckendorf, Barbara Kalsdorf, Anna M Mandalakas, Andrew R Dinardo, David Lewinsohn, Dagmar Schaub, Tina Schmidt, Eva Tolosa, Maja Reimann, Patricia M Sánchez Carballo
Faculty, Staff and Students Publications
This prospective study investigated whole blood-based immune cell biomarkers for pulmonary tuberculosis (TB) immunoprofiling. Blood samples from 34 healthy controls and 51 tuberculosis patients were analyzed at three timepoints: Prior to therapy (T0), after 14 days of therapy (T1), and at the end of treatment (Te). Using multiparameter flow cytometry, 386 immune cell populations were analyzed. Predictive models were developed using two machine learning algorithms. A TB5LF change score, which was based on five cell populations, effectively distinguished tuberculosis patients from controls (AUC = 0.89) and tuberculosis patients before and at the end of treatment (AUC = 0.92). Similarly, the …
Enhancing Skin Integrity In Medical Intensive Care Unit Patients, Chelsea Lannoo
Enhancing Skin Integrity In Medical Intensive Care Unit Patients, Chelsea Lannoo
Publications 2026-present
No abstract provided.
A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell
A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell
Faculty, Staff and Students Publications
Background: Drug-resistant epilepsy (DRE) impacts at least 30% of pediatric epilepsy patients, adversely affecting neurodevelopment and quality of life, as well as risk of sudden unexplained death in epilepsy (SUDEP). While surgical intervention has proven to be an effective treatment for DRE, disparities in access to surgical care persist. Compared to adults, pediatric patients face unique challenges, including delayed recognition of surgical candidacy, limited access to specialized epilepsy centers, complex care coordination, and socioeconomic barriers.
Summary: This review explores the current state of pediatric epilepsy surgery, highlighting its effectiveness in achieving seizure freedom, improving neurocognitive outcomes, and reducing long-term healthcare …