Medicine and Health Sciences Commons^™

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 …

Rescue Use Of A Bovine Carotid Artery Xenograft For Coronary Artery Reattachment In Acute Type A Aortic Dissection, Alexis Nichols, Abraham N Katz, Scott A Weldon, Ginger M Etheridge, Susan Y Green, Anna H Xue, Vicente Orozco-Sevilla, Marc R Moon, Joseph S Coselli

Faculty, Staff and Students Publications

No abstract provided.

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 …

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 …

Generation Of Human Induced Pluripotent Stem Cell Lines From An Age-Related Macular Degeneration Patient With Hyperreflective Foci Overlying Drusen (Rfsci002-A) And An Unaffected Sibling (Rfsci001-A), Adnin Ashrafi, Wendy Runyon, Sam Hu, Ritu Kumar, Timothy Catchpole, Ajeet Singh, Rinki Ratnapriya, Karl G Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) is a leading cause of vision loss, driven by retinal pigment epithelium (RPE) and photoreceptor degeneration. A key feature is drusen accumulation between the RPE and Bruch's membrane. In intermediate AMD, hyperreflective foci (HRF)-bright intraretinal lesions visible on optical coherence tomography (OCT) imaging-serve as biomarkers of disease progression. To study HRF mechanisms, we generated induced pluripotent stem cell (iPSC) lines from an AMD patient with HRF overlying drusen (RFSC4) and their unaffected sibling (RFSC3). These iPSC models offer a platform to explore disease mechanisms and develop therapies for AMD.

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.

Outcomes Of Suprapatellar Intramedullary Nail Fixation Of Tibial Shaft Fractures In Skeletally Immature Patients, Carlos D Pargas-Colina, Tori J Coble, Sara E Davis, David D Spence, Jonathan K Rowland, Derek M Kelly, Benjamin W Sheffer

Faculty, Staff and Students Publications

Background: Tibial shaft fractures in children require individualized treatment approaches, including elastic nails, plates and screws, intramedullary rigid nails (IMN), and external fixators, with selection based on fracture characteristics and patient factors. IMN risks damaging the physis, but can provide enhanced stability and immediate weight bearing. While both infrapatellar and suprapatellar approaches exist for IMN placement, studies in adults have demonstrated that the suprapatellar approach offers higher patient satisfaction, less anterior knee pain, and lower radiation exposure. However, there is a lack of data on IMN for pediatric tibial fractures.

Methods: This single-center, retrospective cohort study analyzed patients aged 11-16 …

Improving Pediatric Heart Failure Outcomes Through Collaboration And Innovation: The Current Status Of The Advanced Cardiac Therapies Improving Outcomes Network (Action), Lydia K Wright, David M Peng, Joseph A Spinner, Jenna M Murray, Matthew J O'Connor, Christina J Vanderpluym, David N Rosenthal, Lauren Smyth, Angela Lorts

Faculty, Staff and Students Publications

The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) was founded in 2017 as a learning health care system to bring together all stakeholders with the aim of improving outcomes for pediatric and congenital heart disease patients with heart failure. From an initial focus on the ventricular assist device (VAD) population, work in the network has expanded to encompass the scope of heart failure in these patients. Through the collection and use of real-world data, the field has gained greater understanding of best practices in care of these patients, as well as improved access to devices with pediatric labeling of devices …

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 …

Low-Dose Metformin Requires Brain Rap1 For Its Antidiabetic Action, Hsiao-Yun Lin, Weisheng Lu, Yanlin He, Yukiko Fu, Kentaro Kaneko, Peimeng Huang, Ana B De La Puente-Gomez, Chunmei Wang, Yongjie Yang, Feng Li, Yong Xu, Makoto Fukuda

Faculty, Staff and Students Publications

Metformin is the most commonly prescribed antidiabetes drug, yet its precise mechanism of action remains controversial. Previous studies have suggested that metformin acts peripherally by reducing hepatic glucose output and altering gut functions. Here, we report a neural mechanism via the small guanosine triphosphatase Ras-related protein 1 (Rap1). Mice with forebrain-specific Rap1 knockout exhibited resistance to the antidiabetic effects of low-dose metformin while remaining sensitive to other antidiabetic agents. Centrally administered metformin inhibited brain Rap1 and reduced hyperglycemia. Conversely, forced activation of brain Rap1 increased glycemia and abolished the glycemic effect of metformin. Metformin activated a specific subset of neurons …

The Glycosyltransferase Poglut1 Regulates Muscle Stem Cell Development And Maintenance In Mice, Soomin Cho, Emilia Servián-Morilla, Victoria Navarro, Beatriz Rodriguez-Gonzalez, Youxi Yuan, Raquel Cano, Arjun A Rambhiya, Radbod Darabi, Robert S Haltiwanger, Carmen Paradas, Hamed Jafar-Nejad

Faculty, Staff and Students Publications

Mutations in protein O-glucosyltransferase 1 (POGLUT1) cause a recessive limb-girdle muscular dystrophy (LGMDR21) with reduced satellite cell number and NOTCH1 signaling in adult patient muscles and impaired myogenic capacity of patient-derived muscle progenitors. However, the in vivo roles of POGLUT1 in the development, function, and maintenance of satellite cells are not well understood. Here, we show that conditional deletion of mouse Poglut1 in myogenic progenitors leads to early lethality, postnatal muscle growth defects, reduced Pax7 expression, abnormality in muscle extracellular matrix, and impaired muscle repair. Poglut1-deficient muscle progenitors exhibit reduced proliferation, enhanced differentiation, and accelerated fusion into myofibers. Inducible loss …

First Assembly Of A Draft Genome Of The Critically Endangered Northern Muriqui ( Brachyteles Hypoxanthus , Primates, Atelidae) Including Non‐Invasive Genotyping Strategies For The Species, Amanda Alves De Melo-Ximenes, Romina Batista, Leonardo Carlos Jeronimo Corvalán, Tomas Marques-Bonet, Lukas Kuderna, Kyle Farh, Jeffrey Rogers, Mariane Da Cruz Kaizer, Jean Philippe Boubli, Fabiano Rodrigues De Melo, Rhewter Nunes, Mariana Pires De Campos Telles

Faculty, Staff and Students Publications

Genomic resources, such as draft genomes, are vital for biodiversity monitoring and conservation. For endangered species, they enable the development of tools like organellar genomes and molecular markers, which are crucial for population genetics. Advances in sequencing technologies now allow high‐throughput genotyping with detailed amplicon sequences, enhancing genetic variation studies. The northern muriqui ( Brachyteles hypoxanthus ), a critically endangered primate endemic to Brazil's Atlantic Forest, currently lacks both nuclear and mitochondrial genome data and species‐specific microsatellite markers for population genetic studies. We assembled a 2.52 Gb draft genome for B. hypoxanthus with 202,243 contigs (N50 = 29,134 bp), and …

Changes In Post-Transplant Serum Testosterone Levels In Men Undergoing Lung Transplantation: A Pilot Study Using The Trinetx Research Network, Austin Thompson, Danly Omil-Lima, Jaime Abraham Perez, Erin Jesse, Mohit Khera, Kenneth Chavin, Nannan Thirumavalavan

Faculty, Staff and Students Publications

Hypogonadism is understudied in men requiring solid organ transplants, particularly among lung transplant recipients. Improvement in serum testosterone levels has been reported in kidney and liver transplantation. Using the TriNetX Research Network, we performed a retrospective cohort study to evaluate the incidence of peri-transplant hypogonadism and the natural course of serum testosterone following successful lung transplantation. Men aged ≥ 18 with a lung transplant and total testosterone drawn within one year pre- and post-transplant were included. Men with receipt of testosterone therapy were excluded. A low testosterone (< 300 ng/dL) and normal testosterone (≥300 ng/dL) cohort was created before employing descriptive and analytic statistics to investigate the incidence of peri-transplant hypogonadism and the change in serum testosterone levels following lung transplantation. In our entire cohort, lung transplantation was not associated with a significant increase in post-transplant serum testosterone (329.86 ± 162.56 ng/dL pre-transplant and 355.13 ± 216.11 ng/dL post-transplant, p = 0.483). The number of men with low testosterone decreased by 9.8% following lung transplantation but was not significant, p = 0.404. In this pilot study, no significant change in the number of hypogonadal men nor serum testosterone levels was observed among men undergoing lung transplantation.

Definitions Of Cardiogenic Shock And Indications For Temporary Mechanical Circulatory Support: Joint Consensus Report Of The Perioperative Quality Initiative And The Enhanced Recovery After Surgery Cardiac Society, Michael C Grant, Charles Scott Brudney, Jaime Hernandez-Montfort, Stephanie O Ibekwe, Amanda Rea, Christian Stoppe, Alexander Zarbock, Andrew D Shaw, Daniel T Engelman, Manreet K Kanwar, Perioperative Quality Initiative (Poqi) And The Enhanced Recovery After Surgery (Eras) Cardiac Society Workgroup

Faculty, Staff and Students Publications

Background: The management of patients with cardiogenic shock (CS) is complex and resource intensive, particularly given the recent surge in temporary mechanical circulatory support (tMCS) devices. This document was created to establish an approach to the assessment of CS to provide early and targeted therapies, including tMCS.

Methods: An interdisciplinary, international panel of experts, using a structured appraisal of the literature and a modified Delphi method, derived consensus regarding the assessment of CS based on pathophysiologic severity, etiology, and phenotypic clustering to guide escalation of care as well as identify those patients who might benefit from tMCS.

Results: Key principles …

Global Cardiac Anesthesia Workforce Assessment: A Cross-Sectional Observational Survey Study, Alexander J C Mittnacht, Carolina S Romero Garcia, Joshua B Cadwell, Jiapeng Huang, Iwan Sofjan, Mohamed R Eltahan, Hong Liu, Chirojit Mukherjee, Fabio Guarracino, Andrew Shaw, Pablo Motta, International Academy Of Cardiac Anaesthesiologists (Iaca) Global Survey Team

Faculty, Staff and Students Publications

Objective: The primary aim of this survey was to assess the demographics, training background, practice setting, and work environment of cardiac anesthesiologists globally.

Design: Cross-sectional study of the global cardiac anesthesia workforce. A multilingual web-based survey was conducted between June 1 and December 31, 2023.

Setting: The survey was distributed via cardiac anesthesia societies, special interest groups, and social media using a non-probabilistic sample and with snowballing techniques.

Participants: Anesthesiologists actively practicing cardiac anesthesia.

Interventions: None.

Measurements and main results: In total, 3,430 participants from 99 countries responded. Results were summarized as descriptive data comparing geographical regions, and noticeable differences …

Experiences Of The Emergency Department Environment: A Qualitative Study With Caregivers Of People With Dementia, Anita N Chary, Michelle Suh, Annika Bhananker, Norvin Hernandez, Ana Paulina Rivera, Ed Boyer, Mark E Kunik, Manish N Shah, Christine Ritchie, Aanand D Naik, Shan W Liu, Maura Kennedy

Faculty, Staff and Students Publications

ED crowding and boarding adversely impact older patients' care and outcomes. Little is known about how ED crowding impacts persons living with dementia, a vulnerable population. This study sought to explore ED experiences of caregivers of people with dementia during a period of ED crowding and boarding. We performed semi-structured interviews with caregivers of people with dementia with an ED visit during a period of ED crowding and boarding at two public hospitals experiencing a threefold increase in boarding from pre-pandemic levels. Participants were recruited via chart review. We coded data using an inductive approach. Three themes emerged from 29 …

Outcomes And Resource Utilization In Hyperkalemic Emergency Department Patients Treated With Patiromer Or Sodium Zirconium Cyclosilicate, William Frank Peacock, Zubaid Rafique, Julie Gayle, James Neuenschwander, Harold Brown, Jennifer Kammerer, Jeffrey Budden, Ning Rosenthal

Faculty, Staff and Students Publications

OBJECTIVES: Hyperkalemia (HK) is a life-threatening condition commonly treated in emergency department (ED). Real-world outcomes associated with ED administration of potassium binders are limited. This study assessed ED discharge disposition and resource utilization in hyperkalemic ED patients treated with patiromer or sodium zirconium cyclosilicate (SZC).

METHODS: We performed a retrospective cohort study using discharge data from 230 hospitals in the Premier PINC AI Healthcare Database. ED patients were included if they were ≥18 years old, had potassium ≥5 mEq/L, and received patiromer/SZC during January 1, 2019 to December 31, 2021. Descriptive statistics and multivariable logistic regression analysis were used to …

Construct And Predictive Validity Of The Kansas City Cardiomyopathy Questionnaire In Adult Congenital Heart Disease, Ryan D Byrne, Ajith P Nair, Stephen J Dolgner, Swati Choudhry, Edward J Hickey, Alexis C Wood, Savitri Fedson, Biykem Bozkurt, Christopher R Broda

Faculty, Staff and Students Publications

Background: The Kansas City Cardiomyopathy Questionnaire (KCCQ) is an Food and Drug Administration-approved health status measure for patients with heart failure (HF) but has not been directly assessed in adult congenital heart disease (ACHD).

Objectives: This study evaluates construct and predictive validity of the KCCQ in ambulatory ACHD patients.

Methods: We performed cross-sectional and prospective cohort studies of ACHD patients who completed the KCCQ to assess construct and predictive validity, respectively. KCCQ scores were compared across ACHD complexity categories, disease characteristics and physiologic failure, and within 2 primary composite outcomes: death or all-cause hospitalization (DH) and death or interventional cardiac …

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 …

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 …

Standard Cardiovascular Risk Prediction Scores Underestimate Risk In Immune-Mediated Thrombotic Thrombocytopenic Purpura Survivors, Binish Javed, Jenna Brown, Jay Meade, Vijay Nambi, Ang Li, Shruti Chaturvedi, Senthil Sukumar

Faculty, Staff and Students Publications

Background: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare hematologic disorder with improved survival due to advancements in treatment. However, long-term cardiovascular morbidity and mortality remain significant. Established cardiovascular risk calculators, such as the 2008 Framingham Heart Study (FHS) global cardiovascular disease (CVD) and the American College of Cardiology/American Heart Association (ACC/AHA) atherosclerotic CVD (ASCVD) risk estimators, may not adequately account for the elevated and unique cardiovascular risks in iTTP survivors.

Objectives: To evaluate the discrimination and calibration of the ACC/AHA ASCVD and FHS global CVD models in predicting major adverse cardiovascular events (MACEs) among iTTP survivors.

Methods: This retrospective …

Plain Language Summary About Glp-1 Treatments In People With Metabolic Dysfunction-Associated Steatotic Liver Disease, Layla A Abushamat, Pir Ahmad Shah, Robert H Eckel, Stephen A Harrison, Diana Barb

Faculty, Staff and Students Publications

No abstract provided.

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 …

High Risk Of Drug-Resistant Tuberculosis In Igra-Negative Contacts: Should Preventive Treatment Be Considered?, Thomas Theo Brehm, Niklas Köhler, Hans-Peter Grobbel, Jürgen Welling, Anna Maria Mandalakas, Vinicius Fava, Erwin Schurr, Christoph Lange

Faculty, Staff and Students Publications

Purpose: Deciding whether to provide preventive treatment to contacts of individuals with multidrug-resistant (MDR) tuberculosis is complex.

Methods: We present the diagnostic pathways, clinical course and outcome of tuberculosis treatment in eight siblings from a single family. Tuberculosis disease was diagnosed by Mycobacterium tuberculosis culture and molecular detection of M. tuberculosis-specific DNA from bronchopulmonary specimens using GeneXpert® MTB/RIF. M. tuberculosis infection was diagnosed by an interferon-gamma release assay (IGRA; QuantiFERON®-TB Gold Plus). Whole exome sequencing for genetic predisposition to mycobacterial infection was performed in one patient.

Results: Six of eight siblings aged 16-20 years from a migrant family of Somali …

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 …

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 …