Medical Specialties Commons^™

Differences In Wait-List Mortality: Temporary Vs Durable Circulatory Support Devices, Mahwash Kassi, Salma Zook, Duc Nguyen, Katelyn Ingram, Sapna Legha, Rayan Yousefzai, Ju Kim, Imad Hussain, Cindy M Martin, Janardhana Gorthi, Adeel Ahsan Syed, Nadia Fida, Arvind Bhimaraj, Edward A Graviss, Ashrith Guha

Faculty, Staff and Students Publications

Background: In 2018, changes in the United Network for Organ Sharing (UNOS) allocation system led to a shift in practices, making durable left ventricular assist devices less desirable as a bridge to transplantation compared to temporary mechanical circulatory support. This study compares the composite outcome of waitlist mortality and delisting incidence at 1 year between these two support types.

Methods: All actively listed adult patients on mechanical circulatory support listed for heart transplantation under the current UNOS system from October 2018 to October 2021 were included, excluding those with right ventricular devices, biventricular devices, total artificial hearts, and extracorporeal membrane …

Are There Rural-Urban Disparities In Cardiovascular Disease Hospitalization And Other Outcomes In People With Gout? A Nationwide Us Study, Jasvinder A Singh, Sumanth R Chandrupatla

Faculty, Staff and Students Publications

Objective: The objective of this study was to assess whether rural vs urban patient residence is associated with the risk of myocardial infarction (MI) hospitalization and other outcomes in people with gout.

Methods: We used the 2016-2019 U.S. National Inpatient Sample (NIS) database to assess whether rural patient residence is associated with a higher risk of MI hospitalizations in gout, while adjusting for demographics (age, sex, race), comorbidity, median household income, insurance payer, and hospital characteristics (location and teaching status, bed size, hospital control, and hospital region). We calculated adjusted odds ratios (aORs) and 95% CIs (CIs).

Results: We found …

Implementation Outcomes Of A Patient Decision-Aid In A Diverse Population With Systemic Lupus Erythematosus In 15 Us Rheumatology Clinics, Jasvinder A Singh, Larry R Hearld, Seth Eisen, W Winn Chatham, Sonali Narain, Narender Annapureddy, Diane L Kamen, Kimberly Trotter, Vikas Majithia, Cathy Lee Ching, Zineb Aouhab, Swamy Venuturupalli, Daniel J Wallace, Rosalind Ramsey-Goldman, Alfred Kim, Maureen Mcmahon, S Sam Lim, Kalpana Bhairavarasu, Alexa Meara, Kenneth Kalunian, T Mark Beasley

Faculty, Staff and Students Publications

Objective: The objective of this study was to examine the clinical outcomes during the implementation of a self-administered patient decision-aid (PtDA) for lupus.

Methods: We provided an effective computerized lupus PtDA in 15 rheumatology outpatient clinics 2019-2024 (including the COVID pandemic). We undertook Organizational Readiness to Implement Change Surveys (ORICs) and Team Learning and Psychological Safety Surveys (TLPSSs) at baseline. The primary study outcome objective measure, percent penetration/reach, was defined as the number of patients who viewed the lupus PtDA at the end of the study, divided by the total number of eligible patients (times 100). We used validated clinical …

Cervical Cancer Outcomes In Women With Hiv In The Age Of Antiretroviral Therapy, Alison K Yoder, Rehema J Thomas, Austin Huang, Anushka Mandalapu, Dana M Roque, Kristina Bowles, Kevin Albuquerque, Christina Son, Michelle S Ludwig, Kimberly Levinson, Anna E Coghill, Elizabeth Yu Chiao, Lilie L Lin

Faculty, Staff and Students Publications

This cross-sectional study investigates the outcomes for women living with HIV and cervical cancer in the US after the emergence of antiretroviral therapy.

Nephrostomy (Pcn) Versus Nephroureteral Stent (Double Jj); An Ongoing Battle, Mohammad Ghasemi-Rad, Kelly Trinh, David Wynne, Mohadese Ahmadzade, Muhammad Hamza Shamim, Omar Guerrero, Ashley Bancroft, Shreya Ranganath, David Leon

Faculty, Staff and Students Publications

In the realm of medical procedures for urinary obstructions, a distinct division of roles is evident: the vast majority of percutaneous nephrostomies (PCNs) are the domain of Interventional Radiology (IR), while the placement of double J stents (JJ stents) falls squarely under Urology. This division, however, is not without its complexities. When confronted with a patient suffering from a urinary obstruction, the decision-making process can become intricate. The underlying cause often fuels the debate: should IR intervene with a PCN, or should Urology place a JJ stent? Such decisions have profound implications for the individual patient.In this comprehensive review, we …

Explant Of An Infected Four-Vessel Fenestrated And Bilateral Iliac Branch Stent Graft In A Patient Of Jehovah’S Witness Faith, Carlotta Bugna, Lucas Ruiter Kanamori, Priscila Suguita, Ezra Koh, Thanila A Macedo, Gustavo S Oderich

Faculty, Staff and Students Publications

Infection of fenestrated-branched stent graft is an uncommon but potentially catastrophic complication. The technical challenge of total stent graft explant and reconstruction of the renal-mesenteric arteries is associated with high mortality and morbidity. Among patients of Jehovah Witness faith, refusal to accept blood transfusion adds to the risk given the invasiveness of these operations. We report a Jehovah's Witness faith patient with a recurrent infection of a four-vessel fenestrated and bilateral iliac branch stent graft treated in two stages by axillofemoral bypass, followed by extra-anatomical reconstruction of the mesenteric, renal, and left internal iliac arteries and total stent graft explant …

Gastrointestinal Infection Before Immune Checkpoint Inhibition Hinders Treatment Efficacy And Increases The Risk Of Colitis, Malek Shatila, Kian Abdul-Baki, Andres Urias Rivera, Kei Takigawa, Irene Jeong-Ah Lee, Andrew Sullivan, Tanvi Gupta, Linfeng Lu, Raakhi Menon, Ayesha Khan, Hamza Salim, Elliot Baerman, Carolina Colli Cruz, Cristina Natha, Varun Vemulapalli, Garrett Coleman, Krishnavathana Varatharajalu, Christopher Fan, Pablo Okhuysen, Anthony J Olszanski, Yan Zhou, Hao Chi Zhang, Mehnaz Shafi, Yinghong Wang

Faculty, Staff and Students Publications

Background: Gastrointestinal (GI) infections, which often result in or stem from intestinal dysbiosis, can affect the efficacy of immune checkpoint inhibitors (ICIs) and increase the risk of adverse effects, such as colitis. In this study, we explored the impact of GI infections before initiation of ICI therapy on the incidence and severity of immune-mediated colitis (IMC) and survival.

Methods: A single-center, retrospective review including all patients who received ICIs from January 2010 to February 2024 and subsequently developed IMC. Patients were screened for IMC and prior GI infections based on symptoms and stool tests. Patients' demographic, IMC, and GI infection-related …

Addressing Anxiety And Depression In The Allergy Clinic Through Motivational Interviewing, Brief Cognitive Behavioral Therapy, And Curious Questions, Marylee Verdi, Dominic Candido, Juliette Madan, Jonathan A Bernstein, Don Bukstein, Aikaterini Anagnostou, Matthew Greenhawt, S Shahzad Mustafa, Julie Wang, Anna Nowak-Wegrzyn, Elissa M Abrams, John Oppenheimer, Alexandra E Conway, Andrew A White, Taylor A Doherty, Richard P Morse, Marcus Shaker

Faculty, Staff and Students Publications

Allergic diseases, particularly food allergy, can be associated with significant psychosocial impairment. Allergist-immunologists can provide evidence-based information to correct misperceptions and misunderstandings regarding food allergy that may perpetuate cycles of fear and anxiety. Whereas motivational interviewing can be an empathetic approach to empower patients to actualize health goals, cognitive behavioral therapy (CBT) aims to provide disease-state insight to facilitate an understanding of risk that can transform health beliefs and behaviors. Brief CBT is a clinical approach that can help address ineffective management paradigms through conversations that begin with curious questions. In this review, we discuss evidence supporting implementation of an …

Mood And Sleep In Young Adults With Type 1 Diabetes, Samantha A Carreon, Marissa N Baudino, Charles G Minard, Sarah K Lyons, Randi Streisand, Barbara J Anderson, Siripoom V Mckay, Tricia S Tang, Sara Nowakowski, Ashley M Butler, Sridevi Devaraj, Marisa E Hilliard

Faculty, Staff and Students Publications

Objective: Depression is associated with sleep problems, and both are associated with higher HbA1c in people with type 1 diabetes (T1D). However, little is known about depressed mood and sleep in young adults with T1D. The aims of this secondary analysis were to provide descriptive statistics of multiple aspects of mood and sleep in young adults with T1D and evaluate associations of depressed mood, diabetes distress, and sleep quality and duration.

Methods: At baseline of a behavioral intervention trial, young adults with T1D completed self-report measures of sleep, diabetes distress, and depressive symptoms. We described sleep metrics across racial/ethnic groups …

Potential Intermediate-Term Survival Differences Among Heart Transplant Recipients From Circulatory Death Vs Brain Death Donors, Anh Nguyen, Abbas Rana, Alexis Shafii, Gabriel Loor, Andrew Civitello, Jose Euberto Mendez Reyes, O Howard Frazier, Todd Rosengart, Kenneth Liao

Faculty, Staff and Students Publications

Background: This study builds upon previous analyses by examining heart transplant survival from donation after circulatory death (DCD) vs donation after brain death (DBD) using the United Network for Organ Sharing (UNOS) database, with follow-up extended to 3 years post-transplant.

Methods: We conducted a retrospective cohort study of 1,453 DCD and 16,561 DBD adult heart transplants from January 2019 to June 2024 using the UNOS database. Propensity scores were generated based on clinically relevant covariates, and 1-to-1 propensity-score matching was performed. Survival analysis was conducted using Cox proportional hazards regression and Kaplan-Meier curves, with the log-rank test comparing overall survival …

Mx1-Labeled Pulp Progenitor Cells Are The Main Contributors Of Odontoblast And Dentin Regeneration In Murine Molars, Dongwook Yang, Youngjae Jeong, Laura Ortinau, Jea Giezl Solidum, Dongsu Park

Faculty, Staff and Students Publications

Regeneration of dentin and odontoblasts from dental pulp progenitor cells is essential for the maintenance of permanent tooth. However, the in vivo identity of endogenous pulp progenitor cells and how they contribute to reparative dentinogenesis remain elusive. Here we show that comparative single-cell analysis of pulp cells before and after molar eruption reveal that endogenous pulp progenitor cells are enriched in coronal papilla-like cells with Mx1-Cre and Cxcl12–GFP expression. Further, lineage tracing and fluorescence-activated cell sorting analysis indicated that Mx1-labeled (Mx1+) pulp cells include long-term repopulating progenitor cells with higher expression of stem cell markers. Notably, …

Mechanisms Underlying Atrial Fibrillation In Chronic Kidney Disease, Jose Alberto Navarro-Garcia, Joshua A Keefe, Jia Song, Na Li, Xander H T Wehrens

Faculty, Staff and Students Publications

Chronic kidney disease (CKD) is a serious and progressive worldwide health problem affecting 15 % of the global population. CKD is associated with higher mortality rates due to secondary complications such as cardiovascular disease. Common cardiovascular complications found in CKD patients include left ventricular hypertrophy, heart failure, and cardiac arrhythmias. The most common type of cardiac arrhythmia in CKD patients is atrial fibrillation (AF). Proper management of AF is important due to its high risk of cardiovascular complications and stroke. The incidence of AF remains higher in CKD patients than in the healthy population, highlighting the need to improve our …

The 2024 Think Tank On Prevention Of Sudden Cardiac Death In The Young: Pathway To Survival A Report From The Cardiac Safety Research Consortium, Jordan E Ezekian, Charles C Anderson, Peter F Aziz, Samia Baluch, Stuart Berger, Martha Lopez-Anderson, Vincent Miller, Yoshihide Mitani, Silvana Molossi, Valarie Morrow, Victoria L Vetter, Elizabeth Vickers Saarel, Bhavya Trivedi, Salim F Idriss, 2024 Think Tank Participants

Faculty, Staff and Students Publications

Sudden cardiac arrest and death in the young is a critical public health issue. It occurs in children of any age, sex, racial or ethnic demographic, or socioeconomic status. Importantly, it can affect any individual-athlete and nonathlete alike. Prevention of sudden death in the young is of high importance not only because of the loss of a young life but also because of the substantial impact to families and to society at large. This White Paper summarizes the proceedings of a third national Think Tank on prevention of sudden cardiac death in the young. The Think Tank, which convened on …

Characterization Of Visual Field Loss Over 4 Years In The Rate Of Progression In Ush2a-Related Retinal Degeneration (Rush2a) Study, Jacque L Duncan, Maureen G Maguire, Lee S Mcdaniel, Nicole R Doucet, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Peiyao Cheng, Todd A Durham, Rachel M Huckfeldt, Robert B Hufnagel, K Thiran Jayasundera, Naheed Khan, Brett Malbin, Ramiro S Maldonado, Michel Michaelides, Mark E Pennesi, Christina Y Weng, Alex Zmejkoski, Shobana Aravind, Hiroshi Ishikawa, David G Birch

Faculty, Staff and Students Publications

Purpose: To report visual field loss using static perimetry (SP) and kinetic perimetry (KP) over 4 years in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study.

Design: Prospective, observational cohort study.

Subjects, participants, and/or controls: Participants had USH2A-related rod-cone degeneration, visual acuity ≥20/80, and KP III4e ≥10° at baseline in the study eye. Preserved cohorts with baseline visual fields sufficient to detect progression were identified.

Methods: Participants were examined annually through 4 years. Mixed-effects models were used to estimate the annual, standardized rate, and percentage rates of change.

Main outcome measures: SP measures included hill of vision (total: …

Novel Parent Survey Measures Sensory Behaviors Incorporating Sensory Modality And Stimulus Intensity, Connor Yee, Ellie Rather, Sakib Hoque, Joon Lee, Stephanie Marton, Jill Roth, Frederick L Oswald, Kenneth J Nobleza, Ankona Banerjee, Holly Harris, Ariel M Lyons-Warren

Faculty, Staff and Students Publications

Objective: Sensory behaviors are common, clinically relevant features of many neurodevelopmental disorders, including autism. However, existing assessments lack granularity in evaluating hypersensitivity and hyposensitivity, particularly in relation to stimulus intensity. We address this gap with our Sensory Response Questionnaire Phenotyper (SRQP), a parent-questionnaire that comprehensively assesses sensory behaviors across five sensory modalities. The purpose of this study was to validate the SRQP against established tools and assess its efficacy in identifying nuanced sensory processing patterns in children with autism.

Methods: A convenience sample of 317 participants (57 with autism, 260 typically developing) aged 3-17 years were enrolled in a cross-sectional …

The Synaptic Architecture Of Layer 5 Thick Tufted Excitatory Neurons In Mouse Visual Cortex, Agnes L Bodor, Casey M Schneider-Mizell, Chi Zhang, Leila Elabbady, Alex Mallen, Andi Bergeson, Derrick Brittain, Joann Buchanan, Daniel J Bumbarger, Rachel Dalley, Clare Gamlin, Emily Joyce, Daniel Kapner, Sam Kinn, Gayathri Mahalingam, Sharmishtaa Seshamani, Shelby Suckow, Marc Takeno, Russel Torres, Wenjing Yin, J Alexander Bae, Manuel A Castro, Sven Dorkenwald, Akhilesh Halageri, Zhen Jia, Chris Jordan, Nico Kemnitz, Kisuk Lee, Kai Li, Ran Lu, Thomas Macrina, Eric Mitchell, Shanka Subhra Mondal, Shang Mu, Barak Nehoran, Sergiy Popovych, William Silversmith, Nicholas L Turner, Szi-Chieh Yu, William Wong, Jingpeng Wu, Brendan Celii, Luke Campagnola, Stephanie C Seeman, Tim Jarsky, Naixin Ren, Anton Arkhipov, Jacob Reimer, H Sebastian Seung, R Clay Reid, Forrest Collman, Nuno Maçarico Da Costa

Faculty, Staff and Students Publications

Despite significant progress in characterizing neocortical cell types, a complete understanding of the synaptic connections of individual excitatory cells remains elusive. This study investigates the connectivity of mouse visual cortex thick tufted layer 5 pyramidal cells, also known as extratelencephalic neurons (L5-ETns), using a 1 mm3 publicly available electron microscopy dataset. The analysis reveals that, in their immediate vicinity, L5-ETns primarily establish connections with a group of inhibitory cell types, which, in turn, specifically target the L5-ETns back. The most common excitatory targets of L5-ETns are layer 5 intertelencephalic neurons (L5-ITns) and layer 6 (L6) pyramidal cells, whereas synapses with …

Diagnostic Value Of Cell-Free Dna Fetal Fraction In Patients With Prenatally Suspected Placenta Accreta Spectrum Disorder, Danielle Chirumbole, Christian M Parobek, Alex Tai, Haleh Sangi-Haghpeykar, Yamely H Mendez, Spoorthi Kamepalli, Christina C Reed, Arthur Ladron De Guevara, Keneshia Lane, Claire Hoppenot, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hendrik A Lombaard

Faculty, Staff and Students Publications

Objective: The purpose of this study was to investigate the relationship between fetal fraction (FF) and placenta accreta spectrum (PAS) pathology in patients with prenatally suspected PAS.

Methods: This was a case-control study utilizing a database of pregnancies with suspected or proven PAS delivered between 6/2012 and 7/2024 at a single institution. Pregnancies were excluded if FF was not reported. The primary outcome was mean FF in pregnancies with a final clinical diagnosis of low FIGO grade (no PAS or FIGO1-2) versus high FIGO grade (FIGO3) placenta accreta. Results were reported as mean FF ± standard error of the mean. …

Sugar Functionalized Collagen Material For Local Modulation Of Innate Immunity, Francesca Taraballi, Claudia Corbo, Julia Enterria-Rosales, John Otto Martinez, Silvia Minardi, Laura Pandolfi, Xing Wang, Ennio Tasciotti, Kavindra V Singh, Cesar A Arias, Bruna Corradetti

Faculty, Staff and Students Publications

Small alterations during the early stages of the innate immune response to an implant can drive large changes in adaptive immunity. Biomaterials for regenerative purposes can be engineered to modulate this immune response in beneficial ways. This study presents an innovative patch designed and functionalized to target the innate immunity at the implant site. Mannose moieties are incorporated into collagen patches, resulting in a technology called Local Immunotuning Patch (LIP), designed to directly interact with antigen presenting cells through their mannose receptor. In vitro, LIP shows anti-inflammatory effects on bone marrow-derived macrophages and inhibitory properties even on methicillin-resistant bacterial strains. …

Semaphorin 3e-Plexin-D1 Pathway Downstream Of The Luteinizing Hormone Surge Regulates Ovulation, Granulosa Cell Luteinization, And Ovarian Angiogenesis In Mice, Hanxue Zhang, Jimmy Dhillon, Paul D Soloway, Bo Shui, Seoyeon Lee, Jennifer K Grenier, Paul R Munn, M Cecilia Ljungberg, Rebecca B Williams, Rainer B Lanz, Yu-Hsiang Liao, Yi A Ren

Faculty, Staff and Students Publications

Ovulation is induced by the luteinizing hormone (LH) surge and accompanied by granulosa cell luteinization and ovarian angiogenesis. Semaphorin 3E (Sema3E)-Plexin-D1 pathway regulates angiogenesis in other tissues, but its role in the ovary is unknown. Evidence indicates that Sema3E-Plexin-D1 pathway plays an important role in the mouse ovary. The expression of Sema3E and its receptor, Plexin-D1, is dynamically regulated in the mouse ovary downstream of the LH surge. This regulation requires the modulation of chromatin accessibility by CCAAT/enhancer-binding proteins α and β. Intraovarian injection of recombinant Sema3E results in reduced ovulation, impaired corpus luteum formation, and aberrant ovarian angiogenesis. These …

Data-Driven Approach To Dynamic Resting State Functional Connectivity In Post-Traumatic Stress Disorder: An Enigma-Pgc Ptsd Study, Carissa W Tomas, Jacklynn M Fitzgerald, C Lexi Baird, Courtney C Haswell, Chadi G Abdallah, Michael Angstadt, Justin T Baker, Hannah Berg, Jennifer U Blackford, Josh Cisler, Andrew S Cotton, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Terri A Deroon-Cassini, Seth G Disner, Wissam El Hage, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Xiaofu He, Ryan Herringa, David Hofmann, Ashley A Huggins, Ahmed Hussain, Jonathan Ipser, Neda Jahanshad, Tanja Jovanovic, Milissa L Kaufman, Yoojean Kim, Anthony King, Saskia B J Koch, Sheri Koopowitz, Amit Lazarov, Lauren A M Lebois, Isreal Liberzon, Shmuel Lissek, Antje Manthey, Geoffrey May, Katie A Mclaughlin, Laura Nawijn, Steven M Nelson, Yuval Neria, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Yann Quidé, Orren Ravid, Kerry Ressler, Marisa Ross, Lauren E Salminen, Kelly Sambrook, Chiahao Shih, Anika Sierk, Scott R Sponheim, Dan J Stein, Jennifer Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Paul M Thompson, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Xin Wang, Hong Xie, Xi Zhu, Sigal Zilcha-Mano, Christine L Larson, Rajendra Morey

Faculty, Staff and Students Publications

Using functional magnetic resonance imaging (fMRI), symptoms of posttraumatic stress disorder (PTSD) have been associated with aberrations in brain networks in the absence of a given cognitive demand or task, called resting-state networks. Prior work has focused on disruption in the static functional connectivity (FC) among specific regions constrained by a priori hypotheses. However, dynamic FC, an approach that examines brain network characteristics over time, may provide a more sensitive measure to understand the network properties underlying dysfunction in PTSD. Further, using a data-driven analytic approach may reveal the contribution of other larger network disturbances beyond those revealed by hypothesis-driven …

A Clinic-Based Healthcare Transition Preparation Program For Adolescents And Young Adults With Type 1 Diabetes: Study Protocol For The Shift Randomized Clinical Trial, Laura J Caccavale, Randi Streisand, Jessica Gokee Larose, Edmond P Wickham, Marisa E Hilliard, Laura M Thornton, Melanie K Bean

Faculty, Staff and Students Publications

Background: A striking 83 % of adolescents and young adults (AYA) with type 1 diabetes (T1D) have glycemic outcomes outside the target range, placing them at risk for acute and chronic complications. Identification of evidence-based strategies to enhance T1D management in AYAs, prior to the transition from pediatric to adult healthcare, is needed to optimize AYA health and adequately prepare them for independence. We present the design of Supporting Health Improvement for Transition in T1D (SHIFT), a randomized clinical trial of a clinic-based transition preparation intervention for AYAs with T1D.

Methods: Participants will be 50 AYAs with T1D (age 16-22 …

Outcomes Of Fenestrated-Branched Endovascular Aortic Repair Of Thoracoabdominal Aortic Aneurysms In Patients With Heritable Thoracic Aortic Diseases, Lucas Ribé, Lucas Ruiter Kanamori, Bruno P Schmid, Thanila A Macedo, Bernardo C Mendes, Steven Maximus, Ying Huang, Felipe Nasser, Gustavo S Oderich

Faculty, Staff and Students Publications

Objective: Open surgical repair is the first-line treatment for patients with complex aortic aneurysms and heritable thoracic aortic diseases (HTADs). Fenestrated-branched endovascular aortic repair (FB-EVAR) has been used selectively in higher-risk patients. This study assessed early- and midterm outcomes of FB-EVAR for complex aortic aneurysms in patients with HTADs.

Methods: We reviewed clinical data, imaging, and outcomes of consecutive patients treated by FB-EVAR for complex abdominal and thoracoabdominal aneurysms from April 2007 to June 2024. Patients with confirmed Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or ACTA2 mutation were included. End points included 30-day mortality and major adverse events, cumulative …

Integrative Exome Sequencing And Machine Learning Identify Micb And Interferon Pathway Genes As Contributors To Ssc Risk, Shamika Ketkar, Hongzheng Dai, Lindsay Burrage, David Murdock, Brian Dawson, Marialbert Acosta-Herrera, Martin Kerick, Javier Martin, Kevin Wilhelm, Jennifer Kay Asmussen, Olivier Lichtarge, Regeneron Genetics Center, Shervin Assassi, Maureen D Mayes, Brendan H Lee

Faculty, Staff and Students Publications

Objectives: Systemic sclerosis (SSc) is a complex autoimmune disease with both known and unidentified genetic contributors. While genome-wide association studies (GWAS) have implicated multiple loci, many reside in noncoding regions. We aimed to identify novel protein-coding variants and pathogenic pathways using exome sequencing (ES) integrated with an Evolutionary Action-Machine Learning (EAML) framework, single-cell RNA sequencing (scRNA-seq), and expression quantitative trait locus (eQTL) analysis.

Methods: GWAS was conducted in 2,559 SSc cases and 893 controls of Caucasian ancestry, with replication in 9,846 cases and 18,333 controls of European ancestry. EAML prioritized genes with high-impact missense variants predictive of disease. Public scRNA-seq …

Effect Of Social Drivers Of Health On Screening For Type 2 Diabetes In Individuals With Gestational Diabetes During Delivery Hospitalization And 4-12 Weeks Postpartum, Ingmar N Bastian, Manisha Gandhi, Mark A Turrentine

Faculty, Staff and Students Publications

Objective: To prospectively evaluate postpartum diabetes screening rates among individuals with gestational diabetes mellitus (GDM) offered testing during the delivery hospitalization or at 4-12 weeks postpartum compared with historic outpatient-only screening and to assess the role of social and structural drivers of health.

Methods: This retrospective study compared patients with GDM who delivered between January 1 and December 31, 2023 (retrospective cohort), and underwent outpatient screening at 4-12 weeks postpartum with a 75-g 2-hour oral glucose tolerance test (OGTT) with a prospective cohort (June 24-November 5, 2024) of the first 100 patients who underwent screening in the immediate postpartum delivery …

The Influence Of Ultra-Wide Field Fluorescein Angiography On The Diagnosis And Management Of Diabetic Retinopathy, Nicole K Scripsema, Tala Al-Khaled, Amy Song, Joelle A Hallak, Rawan Allozi, Aziz A Khanifar, Thanos D Papakostas, Christina Y Weng, Ronald C Gentile, J Peter Campbell, Jessica G Lee, Gennady Landa, Felix Y Chau, William F Mieler, Meenakashi Gupta, Amani A Fawzi, Judy E Kim, Jennifer I Lim, Robison Vernon Paul Chan

Faculty, Staff and Students Publications

Purpose: To study the influence of ultra-widefield fluorescein angiography (FA) on the diagnosis and management of diabetic retinopathy (DR).

Methods: Ten experts in DR completed an online survey in which they were asked to diagnose and manage DR cases using different imaging modalities. Experts independently reviewed 20 cases of DR and provided a diagnosis and management plan for each case, first based on ultra-widefield color-free and red-free images alone and again with the corresponding ultra-widefield FA images. Experts were polled on their diagnostic confidence, use of FA in clinical practice, and opinions on the value of ultra-widefield FA. Based on …

Contribution Of Pannexin Channels To Afterimage Signals In The Amphibian Retina, Yufei Liu, Nick Libian, Zheng Jiang, Wen Shen

Faculty, Staff and Students Publications

Pannexin 1 (Panx1) forms large-pore, single-membrane channels that connect the intracellular and extracellular environments, permitting the passage of ions and small molecules such as ATP. Panx1 channels are involved in diverse signaling pathways that contribute to various physiological processes, including sensory processing, although their precise mechanisms of action remain incompletely understood. This study reveals a Panx1-mediated mechanism regulating visual signal processing in the amphibian retina. Using immunolabeling and confocal imaging, we localized Panx1 channels in the cone-dominated On-bipolar cells, specifically at both somas and axon terminals. Whole-cell patch-clamp recordings showed that these channels have high permeability to Cl⁻ ions, which …

Common Cast Complications, Jessica A Mcgraw-Heinrich, Jon C Wall, Scott B Rosenfeld

Faculty, Staff and Students Publications

Complications can arise from the application, wear, and removal of casts and splints. This text reviews common complications, risk factors, and prevention strategies while exploring the medical-legal implications of these complications. Being aware of common pitfalls can help reduce risk and promote optimal patient outcomes.

Key concepts: (1)Proper and judicious casting and splinting techniques are critical to prevent complications.(2)Thermal injuries can occur due to excessive curing heat and cast saw burns.(3)Poor cast molding can lead to skin sores and loss of fracture reduction.(4)Patients should be comfortable in their cast, and uncontrolled pain warrants investigation.

Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann

Faculty, Staff and Students Publications

Objective: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.

Methods: Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.

Results: We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG …

Rest-Activity Rhythm Phenotypes In Adults With Epilepsy And Intellectual Disability, Nandani Adhyapak, Grace E Cardenas, Mark A Abboud, Vaishnav Krishnan

Faculty, Staff and Students Publications

Objective: Rest-activity rhythms (RARs) are perturbed in many forms of neuropsychiatric illness. In this study, we applied wrist actigraphy to describe RAR perturbations in intellectually disabled adults with epilepsy ("E + ID"), using a cross-sectional case-control design. We examined whether RAR phenotypes correlated with epilepsy severity, deficits in adaptive function, and/or comorbid psychopathology.

Methods: Caregivers of E + ID subjects provided informed consent during routine ambulatory clinic visits and were asked to complete standardized surveys of overall epilepsy severity (GASE, Global Assessment of Severity of Epilepsy), adaptive function (ABAS-3, Adaptive Behavior Assessment System-3) and psychopathology (ABCL, Adult Behavior Checklist). Caregivers …

Endovascular Treatment Of Cirsoid Aneurysms: A Stepwise Approach To Successful Embolization, Ronak Patel, Parker Mitchell, Mohadese Ahmadzade, Mohammad Ghasemi-Rad, Ravi Kaushikkumar Shastri

Faculty, Staff and Students Publications

Cirsoid aneurysms, a subtype of arteriovenous fistulas (AVF), of the scalp are rare pathological lesions characterized by abnormal fistulous connections between superficial arteries and draining veins without intervening capillary beds. We present a case report of a cirsoid aneurysm located on the scalp, treated at our tertiary care center using percutaneous endovascular intervention with injection embolics. This report highlights the challenges posed by complex vascular anatomy and high shunt flow in the treatment of such lesions involving the head and neck. We discuss the rationale for selecting the treatment approach, emphasizing the importance of a patient-specific strategy to achieve successful …