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Full-Text Articles in Medicine and Health Sciences

Temporal Changes In Risk Factors Of Hepatocellular Carcinoma In A Prospective Cirrhosis Cohort, George Cholankeril, Aaron P Thrift, Saira Khaderi, Fasiha Kanwal, Hashem B El-Serag, Thccc Working Group, Hao Duong, Amit G Singal, Sumeet K Asrani, Themistoklis Kourkompetis, Asif Zamir, Jorge A Marrero, Ruben Hernaez, Michelle Luster, Abeer Al-Sarraj, Emad Salem Jun 2025

Temporal Changes In Risk Factors Of Hepatocellular Carcinoma In A Prospective Cirrhosis Cohort, George Cholankeril, Aaron P Thrift, Saira Khaderi, Fasiha Kanwal, Hashem B El-Serag, Thccc Working Group, Hao Duong, Amit G Singal, Sumeet K Asrani, Themistoklis Kourkompetis, Asif Zamir, Jorge A Marrero, Ruben Hernaez, Michelle Luster, Abeer Al-Sarraj, Emad Salem

Faculty, Staff and Students Publications

No abstract provided.


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 Jun 2025

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 …


Recognition And Management Of Persistent Chylomicronemia: A Joint Expert Clinical Consensus By The National Lipid Association And The American Society For Preventive Cardiology, Seyedmohammad Saadatagah, Miriam Larouche, Mohammadreza Naderian, Vijay Nambi, Diane Brisson, Iftikhar J Kullo, P Barton Duell, Erin D Michos, Michael D Shapiro, Gerald F Watts, Daniel Gaudet, Christie M Ballantyne Jun 2025

Recognition And Management Of Persistent Chylomicronemia: A Joint Expert Clinical Consensus By The National Lipid Association And The American Society For Preventive Cardiology, Seyedmohammad Saadatagah, Miriam Larouche, Mohammadreza Naderian, Vijay Nambi, Diane Brisson, Iftikhar J Kullo, P Barton Duell, Erin D Michos, Michael D Shapiro, Gerald F Watts, Daniel Gaudet, Christie M Ballantyne

Faculty, Staff and Students Publications

Extreme hypertriglyceridemia, defined as triglyceride (TG) levels ≥1000 mg/dL, is almost always indicative of chylomicronemia. The current diagnostic approach categorizes individuals with chylomicronemia into familial chylomicronemia syndrome (FCS; prevalence 1-10 per million), caused by the biallelic combination of pathogenic variants that impair the lipolytic action of lipoprotein lipase (LPL), or multifactorial chylomicronemia syndrome (MCS, 1 in 500). A pragmatic framework should emphasize the severity of the phenotype and the risk of complications. Therefore, we endorse the term "persistent chylomicronemia" defined as TG ≥1000 mg/dL in more than half of the measurements to encompass patients with the highest risk for pancreatitis, …


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 Jun 2025

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 …


An Atypical Presentation Of Nodular Hidradenoma Of The Thigh Treated With Mohs Micrographic Surgery, Nabor S Mireles, Natalie H Garcia, Isabella Camacho-Hubbard, Abdul Hafeez Diwan, Jennifer S Ranario Jun 2025

An Atypical Presentation Of Nodular Hidradenoma Of The Thigh Treated With Mohs Micrographic Surgery, Nabor S Mireles, Natalie H Garcia, Isabella Camacho-Hubbard, Abdul Hafeez Diwan, Jennifer S Ranario

Faculty, Staff and Students Publications

Nodular hidradenoma (NH) is a benign adnexal tumor demonstrating both eccrine and apocrine differentiation. NH generally presents as a slow-growing, solitary, firm nodule, most commonly measuring 0.5-2 cm in diameter. It most frequently occurs on the scalp, thorax, abdomen, and gluteal regions, with a predilection for adult women in their fourth to eighth decades of life. We report the case of a 41-year-old immunocompetent female who presented with a red, 3.6 × 2.5 cm nodule on the left thigh. Due to the cystic nature of the lesion, it was initially presumed to be a benign cyst. However, as the lesion …


Baseline Characteristics Of The Us Study To Protect Brain Health Through Lifestyle Intervention To Reduce Risk (Us Pointer): Successful Enrollment Of A Diverse Clinical Trial Cohort At Risk For Cognitive Decline, Rachel A Whitmer, Laura D Baker, Maria C Carrillo, Heather M Snyder, Maryjo L Cleveland, Darren R Gitelman, Miia Kivipelto, Xiaoyan I Leng, Laura Lovato, Kathryn V Papp, Valory N Pavlik, Stephen P Salloway, Christy C Tangney, Sarah Tomaszewski Farias, Jeff D Williamson, Sharon Wilmoth, Nancy Woolard, Melissa Yu, Mark Andrew Espeland, U.S. Pointer Study Group Jun 2025

Baseline Characteristics Of The Us Study To Protect Brain Health Through Lifestyle Intervention To Reduce Risk (Us Pointer): Successful Enrollment Of A Diverse Clinical Trial Cohort At Risk For Cognitive Decline, Rachel A Whitmer, Laura D Baker, Maria C Carrillo, Heather M Snyder, Maryjo L Cleveland, Darren R Gitelman, Miia Kivipelto, Xiaoyan I Leng, Laura Lovato, Kathryn V Papp, Valory N Pavlik, Stephen P Salloway, Christy C Tangney, Sarah Tomaszewski Farias, Jeff D Williamson, Sharon Wilmoth, Nancy Woolard, Melissa Yu, Mark Andrew Espeland, U.S. Pointer Study Group

Faculty, Staff and Students Publications

Introduction: The U.S. Study to Protect Brain Health Through Lifestyle Intervention to Reduce Risk (U.S. POINTER) is a 2-year randomized controlled trial of two lifestyle interventions in 2111 older adults at increased risk for cognitive decline.

Methods: Sociodemographic and clinical characteristics and rates of ancillary study participation were described with means and frequencies.

Results: U.S. POINTER successfully enrolled a cohort, ages 60-79 years, which was ethno-racially inclusive (>30% individuals from groups often under-represented in clinical trials with cognitive outcomes) and 18% residing in neighborhoods with moderate or high levels of socioeconomic deprivation. Enrollees were cognitively intact but at increased …


The Need To Integrate Mental Health Treatment Into The Care Of Mayer-Rokitansky-Küster-Hauser, Teni Davoudian, Emily Hills Jun 2025

The Need To Integrate Mental Health Treatment Into The Care Of Mayer-Rokitansky-Küster-Hauser, Teni Davoudian, Emily Hills

Faculty, Staff and Students Publications

This mini review examines the psychological burdens of Mayer-Rokitansky-Küster-Hauser (MRKH) and encourages collaborations between medical and mental health providers who treat this condition. The psychological comorbidities of MRKH emerge in adolescence and persist into adulthood. For several years, The American College of Obstetricians and Gynecologists and researchers in this field have called for the provision of psychological counseling for individuals with MRKH. However, referrals to qualified mental health professionals remain sparse leaving many to confront the emotional complexities of MRKH with little to no support.


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 Jun 2025

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 …


40 Years After The Discovery Of Helicobacter Pylori: Performing Optimized “Subtraction” For Clinical Eradication, Yi Hu, Ren-Chun Du, Yong-Kang Lai, Yu-Xin Hu, Yu-Chen Zhu, Yan-An Zhou, Chun-Xi Shu, Bo Zhou, Li-Xiang Ling, Xu Shu, Yong Xie, James Y W Lau, Yin Zhu, David Y Graham, Nong-Hua Lu Jun 2025

40 Years After The Discovery Of Helicobacter Pylori: Performing Optimized “Subtraction” For Clinical Eradication, Yi Hu, Ren-Chun Du, Yong-Kang Lai, Yu-Xin Hu, Yu-Chen Zhu, Yan-An Zhou, Chun-Xi Shu, Bo Zhou, Li-Xiang Ling, Xu Shu, Yong Xie, James Y W Lau, Yin Zhu, David Y Graham, Nong-Hua Lu

Faculty, Staff and Students Publications

It has been 40 years since the first discovery of the important human pathogen, Helicobacter pylori (H. pylori). Eradication of the infection continues to pose significant challenges in part because of the global increase in antibiotic resistance. Generally, the “addition” strategy has failed to deliver the desired results for more than a short period and often contributed to the increase in the prevalence of resistant strains. As such, optimization of each component of the treatment strategy has become an increasingly critical focus of research. In this study, we summarized the evolution of H. pylori eradication regimens and the …


Anti-Mullerian Hormone (Amh) Protects Ovarian Follicle Loss By Downregulating Granulosa Cell Function In In Vitro And In Vivo Models, Laura Detti, Michael C Mari, Michael P Diamond, Ghassan M Saed Jun 2025

Anti-Mullerian Hormone (Amh) Protects Ovarian Follicle Loss By Downregulating Granulosa Cell Function In In Vitro And In Vivo Models, Laura Detti, Michael C Mari, Michael P Diamond, Ghassan M Saed

Faculty, Staff and Students Publications

Purpose: AMH inhibits hormone production in luteinized granulosa cells (GCs) and stalls ovarian follicle development in vitro and in vivo. We sought to confirm AMH's mechanism of action through SMAD activation and investigate AMH inhibition of follicle development and function, in vitro and in vivo.

Methods: A primary culture of GCs isolated from follicular fluid was used, and cells were treated with recombinant AMH (rAMH) or placebo for 24 h. For the mouse model, 18-weeks old C57BL female mice were either euthanized at the beginning or treated with rAMH or normal saline for 3 weeks. Primordial (PDF), primary follicle (PRF), …


Corrigendum To “Neuro-Ophthalmic Complications Following Eighth Cranial Nerve Microvascular Decompression” [Am J Ophthalmol Case Rep (2025) Ecollection 1–3 102258], Stanley M Saju, Patrick J Hunt, Pamela Davila-Siliezar, Noor Laylani, Andrew G Lee Jun 2025

Corrigendum To “Neuro-Ophthalmic Complications Following Eighth Cranial Nerve Microvascular Decompression” [Am J Ophthalmol Case Rep (2025) Ecollection 1–3 102258], Stanley M Saju, Patrick J Hunt, Pamela Davila-Siliezar, Noor Laylani, Andrew G Lee

Faculty, Staff and Students Publications

This corrects the article "Neuro-ophthalmic complications following eighth cranial nerve microvascularx decompression" in volume 37, 102258.


Comparing The Performance Of 3 Sarcopenia Definitions For Predicting Adverse Events Prior To Liver Transplant, Heidi E Johnston, Hannah L Mayr, Melita Andelkovic, Tahnie G Takefala, Yanyan Chen, Aaron P Thrift, Graeme A Macdonald, Ingrid J Hickman Jun 2025

Comparing The Performance Of 3 Sarcopenia Definitions For Predicting Adverse Events Prior To Liver Transplant, Heidi E Johnston, Hannah L Mayr, Melita Andelkovic, Tahnie G Takefala, Yanyan Chen, Aaron P Thrift, Graeme A Macdonald, Ingrid J Hickman

Faculty, Staff and Students Publications

Background: Sarcopenia is a syndrome of severe muscle wasting, associated with adverse outcomes related to liver transplantation (LT). There are several approaches used to identify sarcopenia. We aimed to investigate the prevalence of sarcopenia using 3 different criteria and determine how these performed in relation to clinical outcomes.

Methods: The cohort study included 237 adults with cirrhosis referred for LT. Sarcopenia was identified using (1) CT-defined; and the (2) original and (3) updated European Working Group on Sarcopenia in Older People criteria (EWGSOP1 and 2). Logistic regression was used to estimate OR and 95% CI for the relationships between sarcopenia …


Barriers To And Facilitators Of Sustaining A Systemic Lupus Erythematosus (Sle) Patient Decision Aid In Regular Rheumatology Outpatient Care In The Usa, Erin E Blanchard, Allyson G Hall, Ezra Gore, Parvaneh Yaghoubi Jami, Aizhan Karabukayeva, Larry R Hearld, Shelby Gontarz, Jasvinder A Singh Jun 2025

Barriers To And Facilitators Of Sustaining A Systemic Lupus Erythematosus (Sle) Patient Decision Aid In Regular Rheumatology Outpatient Care In The Usa, Erin E Blanchard, Allyson G Hall, Ezra Gore, Parvaneh Yaghoubi Jami, Aizhan Karabukayeva, Larry R Hearld, Shelby Gontarz, Jasvinder A Singh

Faculty, Staff and Students Publications

Objective: This study investigates the barriers to and facilitators of sustaining a decision aid (DA) tool for patients with SLE in routine rheumatology outpatient care across the USA. The DA was initially developed for assisting patients with SLE in making informed medication choices by providing personalized information on their treatment process.

Methods: We conducted semi-structured interviews with clinicians, administrators, and information technology (IT) professionals from 15 geographically diverse rheumatology clinics that participated in a large-scale DA implementation trial. Interviews were transcribed and analysed using NVivo, with thematic coding to identify key factors influencing DA sustainability.

Results: The analysis identified several …


Conduction System Pacing Compared With Biventricular Pacing For Cardiac Resynchronization Therapy In Patients With Heart Failure And Mildly Reduced Left Ventricular Ejection Fraction: Results From International Collaborative Lbbap Study (I-Clas) Group, Pugazhendhi Vijayaraman, Francesco Zanon, Shunmuga Sundaram Ponnusamy, Bengt Herweg, Parikshit Sharma, Manuel Molina-Lerma, Marek Jastrzębski, Zachary Whinnett, Kevin Vernooy, Rajeev K Pathak, Roderick Tung, Gaurav Upadhyay, Karol Curila, Dipen Zalavadia, Nischay Shah, Lina Marcantoni, Mohamed Gad, Ramez Morcos, Pawel Moskal, Akriti Naraen, Mishal Mumtaz, Jamario R Skeete, Praneet S Katrapati, Jeffrey Kolominsky, Johan Van Koll, Mihail G Chelu, Kenneth A Ellenbogen, Oscar Cano Jun 2025

Conduction System Pacing Compared With Biventricular Pacing For Cardiac Resynchronization Therapy In Patients With Heart Failure And Mildly Reduced Left Ventricular Ejection Fraction: Results From International Collaborative Lbbap Study (I-Clas) Group, Pugazhendhi Vijayaraman, Francesco Zanon, Shunmuga Sundaram Ponnusamy, Bengt Herweg, Parikshit Sharma, Manuel Molina-Lerma, Marek Jastrzębski, Zachary Whinnett, Kevin Vernooy, Rajeev K Pathak, Roderick Tung, Gaurav Upadhyay, Karol Curila, Dipen Zalavadia, Nischay Shah, Lina Marcantoni, Mohamed Gad, Ramez Morcos, Pawel Moskal, Akriti Naraen, Mishal Mumtaz, Jamario R Skeete, Praneet S Katrapati, Jeffrey Kolominsky, Johan Van Koll, Mihail G Chelu, Kenneth A Ellenbogen, Oscar Cano

Faculty, Staff and Students Publications

Background: Cardiac resynchronization therapy (CRT) is a guideline-recommended therapy in patients with heart failure with mildly reduced ejection fraction (HFmrEF, 36%-50%) and left bundle branch block or indication for ventricular pacing. Conduction system pacing (CSP) using left bundle branch area pacing or His bundle pacing has been shown to be a safe and physiologic alternative to biventricular pacing (BVP).

Objective: The aim of this study was to compare the clinical outcomes between BVP and CSP for patients with HFmrEF undergoing CRT.

Methods: Consecutive patients who underwent BVP or CSP with HFmrEF between January 2018 and June 2023 at 16 international …


Clinical Characteristics And Longitudinal Associations With Obsessive-Compulsive Disorder In Youth Exposed To Trauma, Caitlin M Pinciotti, Paul J Rathouz, Andrew G Guzick, Jeffrey D Shahidullah, Emily J Bivins, David B Riddle, Ogechi Cynthia Onyeka, Eric A Storch, Wayne K Goodman, Kelli Franco, Justin F Rousseau, D Jeffrey Newport, Karen Dineen Wagner, Charles B Nemeroff Jun 2025

Clinical Characteristics And Longitudinal Associations With Obsessive-Compulsive Disorder In Youth Exposed To Trauma, Caitlin M Pinciotti, Paul J Rathouz, Andrew G Guzick, Jeffrey D Shahidullah, Emily J Bivins, David B Riddle, Ogechi Cynthia Onyeka, Eric A Storch, Wayne K Goodman, Kelli Franco, Justin F Rousseau, D Jeffrey Newport, Karen Dineen Wagner, Charles B Nemeroff

Faculty, Staff and Students Publications

Childhood trauma exposure is associated with posttraumatic stress symptoms (PTSS) and suicidality, however it is also a risk factor for obsessive-compulsive disorder (OCD) in adults. Research examining the relationship between childhood trauma and OCD in youth is mixed, and there is a dearth of research examining the associations among OCD, PTSS, and suicidality. As a result, conclusions have been drawn from primarily cross-sectional adult samples. No study has examined the clinical characteristics associated with OCD in trauma-exposed youth, nor its associations with PTSS and suicidality over time. To address this gap, the present study used logistic regressions and generalized estimating …


An Innovative Interprofessional Mock Trial Experience: Collaboration Between Emergency Medicine Residency Program And Law School As A Tool To Demonstrate Medical Malpractice Litigation, Adaeze Stephanie Onyechi, Cedric Dark, Vidya Eswaran Jun 2025

An Innovative Interprofessional Mock Trial Experience: Collaboration Between Emergency Medicine Residency Program And Law School As A Tool To Demonstrate Medical Malpractice Litigation, Adaeze Stephanie Onyechi, Cedric Dark, Vidya Eswaran

Faculty, Staff and Students Publications

Background: Due to the nature of the job and healthcare climate, emergency medicine physicians are constantly at risk for malpractice claims. Despite this, there is a gap in education around malpractice litigation. Given the considerable number of curricular topics residency programs must cover in conjunction with the volume of clinical hours residents work, we found that there is a need for an educational experience that is thorough yet compact enough to cause minimal disruption for educators and trainees. We created an easily reproducible educational session featuring collaboration between an emergency medicine residency program and a law school that covers medical …


Post-Tevar Type A Aortic Dissection: Insights And Future Directions, Jessica K Wang, Xander H T Wehrens, K Jane Grande-Allen Jun 2025

Post-Tevar Type A Aortic Dissection: Insights And Future Directions, Jessica K Wang, Xander H T Wehrens, K Jane Grande-Allen

Faculty, Staff and Students Publications

No abstract provided.


Injectable Ionic Hydrogel Conductors: Advancing Material Design To Transform Cardiac Pacing, Gabriel J Rodriguez-Rivera, Allison Post, Mathews John, Derek Bashe, Fei Xu, Trace Larue, Abbey Nkansah, Megan Wancura, Malgorzata Chwatko, Christina Waldron, Nikhith Kalkunte, Janet Zoldan, Mathieu Arseneault, Abdou Elgalad, Manuel K Rausch, Mehdi Razavi, Elizabeth Cosgriff-Hernandez Jun 2025

Injectable Ionic Hydrogel Conductors: Advancing Material Design To Transform Cardiac Pacing, Gabriel J Rodriguez-Rivera, Allison Post, Mathews John, Derek Bashe, Fei Xu, Trace Larue, Abbey Nkansah, Megan Wancura, Malgorzata Chwatko, Christina Waldron, Nikhith Kalkunte, Janet Zoldan, Mathieu Arseneault, Abdou Elgalad, Manuel K Rausch, Mehdi Razavi, Elizabeth Cosgriff-Hernandez

Faculty, Staff and Students Publications

Direct pacing of the mid myocardium where re-entry originates can be used to prevent ventricular arrhythmias and circumvent the need for painful defibrillation or cardiac ablation. However, there are no pacing electrodes small enough to navigate the coronary veins that cross these culprit scar regions. To address this need, we have developed an injectable ionically conductive hydrogel electrode that can fill the epicardial coronary veins and transform them into flexible electrodes. A new hydrogel chemistry based on a polyether urethane diacrylamide macromer was developed that matches myocardial stiffness and is resistant to hydrolysis. Conductivity was imparted using ionic precursor solutions …


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 Jun 2025

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 Jun 2025

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 …


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 Jun 2025

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 Jun 2025

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 …


Histologic- And Genomic-Directed Adjuvant Therapy For Ampullary Adenocarcinoma: A Hidden Genome-Derived Analysis, Brett L Ecker, Kenneth Seier, Ankur Choubey, Austin M Eckhoff, Gabriella N Tortorello, Vinod P Balachandran, Nicola Blackburn, Michael I D'Angelica, Ronald P Dematteo, Daniel G Blazer, Jeffrey A Drebin, William E Fisher, Anthony J Gill, Marie-Claude Gingras, T Peter Kingham, Major K Lee, Michael E Lidsky, Daniel P Nussbaum, Michael J Overman, Jaswinder S Samra, Ronglai Shen, Carlie S Sigel, Charles M Vollmer, Alice C Wei, Sabino Zani, Australian Pancreatic Genome Initiative, Robert E Roses, Mithat Gonen, William R Jarnagin Jun 2025

Histologic- And Genomic-Directed Adjuvant Therapy For Ampullary Adenocarcinoma: A Hidden Genome-Derived Analysis, Brett L Ecker, Kenneth Seier, Ankur Choubey, Austin M Eckhoff, Gabriella N Tortorello, Vinod P Balachandran, Nicola Blackburn, Michael I D'Angelica, Ronald P Dematteo, Daniel G Blazer, Jeffrey A Drebin, William E Fisher, Anthony J Gill, Marie-Claude Gingras, T Peter Kingham, Major K Lee, Michael E Lidsky, Daniel P Nussbaum, Michael J Overman, Jaswinder S Samra, Ronglai Shen, Carlie S Sigel, Charles M Vollmer, Alice C Wei, Sabino Zani, Australian Pancreatic Genome Initiative, Robert E Roses, Mithat Gonen, William R Jarnagin

Faculty, Staff and Students Publications

Background: The benefit of adjuvant chemotherapy (AC) for ampullary adenocarcinoma is unclear. The Hidden Genome model classifies prognostic subtypes with greater accuracy than standard histologic classification (intestinal [INT] vs pancreatobiliary [PB]), but its predictive capacity to guide the use of AC remains unstudied.

Methods: We applied the Hidden Genome model to an international cohort of 183 patients with resected ampullary adenocarcinoma who underwent genomic sequencing. The model quantified the predicted cell of origin (colorectal vs pancreas/distal bile duct) in all specimens. Overall survival (OS) was compared using Kaplan-Meier estimates, stratified by AC use versus surgery alone (SA).

Results: Most patients …


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 Jun 2025

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 = …


All Genetic Subtypes Of B-Cell Acute Lymphoblastic Leukemia Exhibit Increased Incidence Rates In Children With Down Syndrome, Ching-Ju Hsu, Jeremy M Schraw, Tania A Desrosiers, Amanda E Janitz, Russell S Kirby, Eirini Nestoridi, Wendy N Nembhard, Jason L Salemi, Charles Shumate, Jean Paul Tanner, Mahsa M Yazdy, Michael E Scheurer, Karen R Rabin, Philip J Lupo Jun 2025

All Genetic Subtypes Of B-Cell Acute Lymphoblastic Leukemia Exhibit Increased Incidence Rates In Children With Down Syndrome, Ching-Ju Hsu, Jeremy M Schraw, Tania A Desrosiers, Amanda E Janitz, Russell S Kirby, Eirini Nestoridi, Wendy N Nembhard, Jason L Salemi, Charles Shumate, Jean Paul Tanner, Mahsa M Yazdy, Michael E Scheurer, Karen R Rabin, Philip J Lupo

Faculty, Staff and Students Publications

No abstract provided.


A Phenotypic Screen Identifies Xanthohumol And Other Flavonoids As Killers Of Bladder Cancer, Michael J Bolt, Jessica Oceguera, Alejandra Rivera Tostado, Christopher D Candler, Elina Mosa, Kazem Safari, Maureen G Mancini, Michael A Mancini Jun 2025

A Phenotypic Screen Identifies Xanthohumol And Other Flavonoids As Killers Of Bladder Cancer, Michael J Bolt, Jessica Oceguera, Alejandra Rivera Tostado, Christopher D Candler, Elina Mosa, Kazem Safari, Maureen G Mancini, Michael A Mancini

Faculty, Staff and Students Publications

Bladder cancer accounts for 4 % of cancer diagnoses in the US. Current treatments primarily involve trans-urethral resection of bladder tumors (TURBT) and immunotherapy with Bacille Calmette-Guerin (BCG). Despite the efficacy of TURBT, issues with residual tumors persist. We chose to utilize Cell Painting to screen a set of 244 flavonoid compounds for bladder cancer cell toxicity. Using multiparametric high content analysis termed SPACe, we discover promising candidates underscoring the potential of flavonoids in targeting bladder cancer cells and elucidating their mechanisms of action. Notably, compounds such as xanthohumol show promise in reducing cancer cell viability by altering lipid metabolism. …


Middle Meningeal Artery Embolization As A Perioperative Adjunct To Surgical Evacuation Of Nonacute Subdural Hematomas: An Multicenter Analysis Of Safety And Efficacy, Walid K Salah, Cordell Baker, Jonathan P Scoville, Joshua C Hunsaker, Christopher S Ogilvy, Justin M Moore, Howard A Riina, Elad I Levy, Alejandro M Spiotta, Brian T Jankowitz, C Michael Cawley, Alexander A Khalessi, Omar Tanweer, Ricardo Hanel, Bradley A Gross, Okkes Kuybu, Alex Nguyen Hoang, Ammad A Baig, Mir Hojjat Khorasanizadeh, Aldo A Mendez, Gustavo Cortez, Jason M Davies, Sandra Narayanan, Brian M Howard, Michael J Lang, Adnan H Siddiqui, Ajith Thomas, Peter Kan, Jan-Karl Burkhardt, Mohamed M Salem, Ramesh Grandhi Jun 2025

Middle Meningeal Artery Embolization As A Perioperative Adjunct To Surgical Evacuation Of Nonacute Subdural Hematomas: An Multicenter Analysis Of Safety And Efficacy, Walid K Salah, Cordell Baker, Jonathan P Scoville, Joshua C Hunsaker, Christopher S Ogilvy, Justin M Moore, Howard A Riina, Elad I Levy, Alejandro M Spiotta, Brian T Jankowitz, C Michael Cawley, Alexander A Khalessi, Omar Tanweer, Ricardo Hanel, Bradley A Gross, Okkes Kuybu, Alex Nguyen Hoang, Ammad A Baig, Mir Hojjat Khorasanizadeh, Aldo A Mendez, Gustavo Cortez, Jason M Davies, Sandra Narayanan, Brian M Howard, Michael J Lang, Adnan H Siddiqui, Ajith Thomas, Peter Kan, Jan-Karl Burkhardt, Mohamed M Salem, Ramesh Grandhi

Faculty, Staff and Students Publications

Background

By 2030, nonacute subdural hematomas (NASHs) will likely be the most common cranial neurosurgery pathology. Treatment with surgical evacuation may be necessary, but the recurrence rate after surgery is as high as 30%. Minimally invasive middle meningeal artery embolization (MMAE) during the perioperative period has been posited as an adjunctive treatment to decrease the potential for recurrence after surgical evacuation. We evaluated the safety and efficacy of concurrent MMAE in a multi-institutional cohort.

Methods

Data from 145 patients (median age 73 years) with NASH who underwent surgical evacuation and MMAE in the perioperative period were retrospectively collected from 15 …


Cost Analysis Of Antiarrhythmic Drug Monitoring In Patients Hospitalized With Atrial Fibrillation And Flutter, Abdul Mannan Khan Minhas, Taha Mansoor, Mohamed M Gad, Mihail G Chelu, Jalaj Garg, Dmitry Abramov Jun 2025

Cost Analysis Of Antiarrhythmic Drug Monitoring In Patients Hospitalized With Atrial Fibrillation And Flutter, Abdul Mannan Khan Minhas, Taha Mansoor, Mohamed M Gad, Mihail G Chelu, Jalaj Garg, Dmitry Abramov

Faculty, Staff and Students Publications

No abstract provided.


Interactions Between Adgrf1 (Gpr110) And Extracellular Matrix Proteins Govern Its Effects On Tumorigenesis In Her2-Positive Breast Cancer, Noor Mazin Abdulkareem, Raksha Bhat, Micah Castillo, Sung Yun Jung, Suhas Vasaikar, Sarmistha Nanda, Alexis Ruiz, Martin Shea, Wangjia Cao, Jamunarani Veeraraghavan, Hee-Yong Kim, Tasneem Bawa-Khalfe, Tahir Hussain, Xinli Liu, Preethi Gunaratne, Rachel Schiff, Meghana V Trivedi Jun 2025

Interactions Between Adgrf1 (Gpr110) And Extracellular Matrix Proteins Govern Its Effects On Tumorigenesis In Her2-Positive Breast Cancer, Noor Mazin Abdulkareem, Raksha Bhat, Micah Castillo, Sung Yun Jung, Suhas Vasaikar, Sarmistha Nanda, Alexis Ruiz, Martin Shea, Wangjia Cao, Jamunarani Veeraraghavan, Hee-Yong Kim, Tasneem Bawa-Khalfe, Tahir Hussain, Xinli Liu, Preethi Gunaratne, Rachel Schiff, Meghana V Trivedi

Faculty, Staff and Students Publications

Background and purpose: We and others have previously shown that ADGRF1, an adhesion G protein-coupled receptor, is overexpressed and associated with poor survival in many cancers, including human epidermal growth factor receptor-2 (HER2) breast cancer (BC). Also, we have reported the tumour-promoting function of ADGRF1 using preclinical models of HER2+ BC. In this study, we investigated the effect of ADGRF1 overexpression in an orthotopic in vivo model as well as downstream signalling of ADGRF1 in HER2+ BC.

Experimental approach: We utilized a doxycycline (Dox)-induced ADGRF1 overexpression system in HER2+ BC cell lines and performed various in vitro and in vivo …


Speech Delay And Hearing Rehabilitation Disparities In Children With Hearing Loss, Lacey C Magee, Malek Bouzaher, Mihika Thapliyal, Yi-Chun Liu, Samantha Anne Jun 2025

Speech Delay And Hearing Rehabilitation Disparities In Children With Hearing Loss, Lacey C Magee, Malek Bouzaher, Mihika Thapliyal, Yi-Chun Liu, Samantha Anne

Faculty, Staff and Students Publications

Objectives: To investigate the influence of race and insurance type on speech delay rates and hearing rehabilitation access in children with bilateral hearing loss (HL).

Study design: Retrospective cross-sectional study of pediatric patients with bilateral HL who received cochlear implants (CIs) or hearing aids (HAs).

Setting: This study used the national Pediatric Health Information System (PHIS) database to identify patients with HL across 52 tertiary care pediatric hospitals in the United States.

Methods: Data collected included demographics, CI/HA use, speech delay/disorders, and type of insurance coverage.

Results: This study identified 18,422 patients with bilateral HL (40.1% female, 66.3% white, 66.3% …