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Articles 10231 - 10260 of 324180
Full-Text Articles in Medicine and Health Sciences
Predominant Symptom In Gastroparesis: Relationships To Quality Of Life, Treatments, And Outcome, Madhusudan Grover, Bruno P Chumpitazi, Helen Burton-Murray, Irene Sarosiek, Baha Moshiree, Geoffrey A Preidis, Robert J Shulman, Laura A Miriel, Dave Shade, Braden Kuo, Richard W Mccallum, Thomas L Abell, Pankaj J Pasricha
Predominant Symptom In Gastroparesis: Relationships To Quality Of Life, Treatments, And Outcome, Madhusudan Grover, Bruno P Chumpitazi, Helen Burton-Murray, Irene Sarosiek, Baha Moshiree, Geoffrey A Preidis, Robert J Shulman, Laura A Miriel, Dave Shade, Braden Kuo, Richard W Mccallum, Thomas L Abell, Pankaj J Pasricha
Faculty, Staff and Students Publications
Background: Patients with gastroparesis (Gp) can have a variety of symptoms. Apart from use of prokinetics, symptomatic therapies for the predominant symptom (PrS) are used.
Aims: (1) To classify Gp patients based on their PrS; (2) To determine differences in Gp symptoms, gastric emptying (GE), quality of life (QOL), treatments, and symptom improvement among Gp patients with different PrS.
Methods: Gp patients were enrolled in a multicenter registry and followed for 96-weeks. Patients recorded their PrS and completed questionnaires assessing symptoms and QOL at enrollment and at follow up visits.
Results: Of 1013 Gp patients (361 diabetic, 607 idiopathic, 45 …
Predictive Validity Of The Obsessive-Compulsive Inventory-4 And Florida Obsessive-Compulsive Inventory-Ii Severity Scale, Mahnoor Ahmad, Vanessa Zavala Cruz, Dayan Berrones, Josselyn S Muñoz, Diana Obando, Servando Rodriguez Barajas, Renee M Frederick, Jacey L Anderberg, Hannah C Moore, Marcos E Ochoa-Panaifo, Mayra C Martinez Mallen, Ogechi C Onyeka, Andrew D Wiese, Melisa N Sagarnaga, Joseph F Mcguire, Ygor Arzeno Ferrão, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Wayne K Goodman, James J Crowley, Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (Gttoc)
Predictive Validity Of The Obsessive-Compulsive Inventory-4 And Florida Obsessive-Compulsive Inventory-Ii Severity Scale, Mahnoor Ahmad, Vanessa Zavala Cruz, Dayan Berrones, Josselyn S Muñoz, Diana Obando, Servando Rodriguez Barajas, Renee M Frederick, Jacey L Anderberg, Hannah C Moore, Marcos E Ochoa-Panaifo, Mayra C Martinez Mallen, Ogechi C Onyeka, Andrew D Wiese, Melisa N Sagarnaga, Joseph F Mcguire, Ygor Arzeno Ferrão, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Wayne K Goodman, James J Crowley, Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (Gttoc)
Faculty, Staff and Students Publications
Efficient and accurate screening tools are crucial for improving early identification and treatment outcomes among individuals with obsessive-compulsive disorder (OCD). This study evaluated the sensitivity and specificity of two OCD screening measures: the Obsessive-Compulsive Inventory-4 (OCI-4) and the Florida Obsessive-Compulsive Inventory-II (FOCI-II) severity scale. The measures were administered in a large transnational sample of Spanish speaking Latin American adults (N = 1696) with elevated obsessive-compulsive symptomatology. Participants completed diagnostic interviews (MINI and Y-BOCS) and self-report assessments across 23 sites in 11 countries. Both measures significantly distinguished OCD from non-OCD cases, with the FOCI-II demonstrating somewhat better predictive performance (AUC = …
Comparison Of Opioid Utilization In Older Adults With Rheumatoid Arthritis Before And After Initiating Biological Or Targeted Synthetic Disease-Modifying Antirheumatic Drugs, Omkar Ghodke, Sebastian Bruera, Kaustuv Bhattacharya, Sujith Ramachandran, John P Bentley, Sandeep K Agarwal, Yi Yang
Comparison Of Opioid Utilization In Older Adults With Rheumatoid Arthritis Before And After Initiating Biological Or Targeted Synthetic Disease-Modifying Antirheumatic Drugs, Omkar Ghodke, Sebastian Bruera, Kaustuv Bhattacharya, Sujith Ramachandran, John P Bentley, Sandeep K Agarwal, Yi Yang
Faculty, Staff and Students Publications
Introduction: Opioid use is common in rheumatoid arthritis (RA) for pain management; however, evidence of opioid-associated adverse events is increasing. While biological (b) or targeted synthetic (ts) disease-modifying antirheumatic drugs (DMARDs) improve functional outcomes such as pain, little is known about their impact on opioid utilization patterns. This study investigated opioid utilization before and after b/tsDMARD initiation and assessed effect modification by sex.
Methods: Using 5% Medicare claims data from 2012 to 2020, this cohort study included older adults (≥ 65 years) with RA who initiated b/tsDMARDs (first prescription = index date), and had continuous Medicare Parts A, B, and …
Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Abdul Hafeez Diwan, Omid Jalali
Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Abdul Hafeez Diwan, Omid Jalali
Faculty, Staff and Students Publications
Vitiligo and lichen sclerosus (LS) are autoimmune dermatoses that may share overlapping clinical and histopathologic features, posing diagnostic challenges when they occur concurrently. We report a biopsy-confirmed case of vulvar vitiligo and LS in a 61-year-old woman presenting with pruritic, depigmented patches on the labia majora and minora. Histopathologic examination showed epidermal thinning with papillary dermal hyalinization and a dense, band-like lymphocytic infiltrate consistent with LS. Melan-A immunostaining demonstrated a complete absence of epidermal melanocytes, confirming concurrent vitiligo rather than LS-related post-inflammatory hypopigmentation. This case underscores the importance of correlating subtle clinical clues with melanocyte-specific immunostains to distinguish coexistent vitiligo …
Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, Jimmy Villiera, Mark Zobeck, Joseph Mhango, Allison Silverstein, Samuel Maloya, Apatsa Matatiyo, Eluness Simwela, Honour Mhango, Desire Hellings, Brigid O'Brien, Claudia Wallrauch, Tom Heller, Matthew Painschab, Kate Westmoreland, Atupele Mpasa, Rizine Mzikamanda, Nmazuo Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Carl E Allen, Michael E Scheurer
Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, Jimmy Villiera, Mark Zobeck, Joseph Mhango, Allison Silverstein, Samuel Maloya, Apatsa Matatiyo, Eluness Simwela, Honour Mhango, Desire Hellings, Brigid O'Brien, Claudia Wallrauch, Tom Heller, Matthew Painschab, Kate Westmoreland, Atupele Mpasa, Rizine Mzikamanda, Nmazuo Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Carl E Allen, Michael E Scheurer
Faculty, Staff and Students Publications
Purpose: Few data describe the modern epidemiology of pediatric HIV-associated cancers in sub-Saharan Africa, home to over 80% of the world's children living with HIV. This study evaluated the incidence of cancers among these children over 15 years after widespread antiretroviral therapy (ART) adoption in Malawi.
Methods: We conducted a retrospective population-based cohort study leveraging multiple independent data sources comprehensive of all cancer diagnoses among children living with HIV in Northern and Central Malawi between 2010 and 2024. HIV-associated cancers were defined as those cancers with well-established epidemiologic associations with HIV. Cumulative incidence and average annual percent change were estimated …
Surgical Repair Of Double-Outlet Right Ventricle With Doubly Committed Juxtaarterial Ventricular Septal Defect: The Role Of Virtual Reality, Kaimal A Jayakumar, Javier Brenes, Jeffery S Heinle
Surgical Repair Of Double-Outlet Right Ventricle With Doubly Committed Juxtaarterial Ventricular Septal Defect: The Role Of Virtual Reality, Kaimal A Jayakumar, Javier Brenes, Jeffery S Heinle
Faculty, Staff and Students Publications
Double-outlet right ventricle (DORV) with a doubly committed juxtaarterial ventricular septal defect (VSD) presents significant surgical challenges. We report a neonate with DORV, a hypoplastic aortic arch, and a patent ductus arteriosus. Virtual reality (VR) imaging provided detailed visualization, confirming the VSD's position beneath both great arteries. Intraventricular rerouting was unfeasible given the patient's small systemic structures and tricuspid valve chordae. The patient underwent successful VSD closure through a transarterial approach, arterial switch operation, and arch repair. This case highlights the utility of VR-based planning in optimizing surgical strategy for complex congenital heart defects.
Communicating Across Languages: Experiences Of Spanish-Speaking People With Dementia And Care Partners In The Emergency Department, Annika R Bhananker, Edgar Ordoñez, Michelle I Suh, Manish N Shah
Communicating Across Languages: Experiences Of Spanish-Speaking People With Dementia And Care Partners In The Emergency Department, Annika R Bhananker, Edgar Ordoñez, Michelle I Suh, Manish N Shah
Faculty, Staff and Students Publications
No abstract provided.
Predicting Mortality And Costs After Emergency Department Visits By People With Dementia: Timing And Location Matter, Kyler M Godwin, James A Tulsky, Joan M Teno
Predicting Mortality And Costs After Emergency Department Visits By People With Dementia: Timing And Location Matter, Kyler M Godwin, James A Tulsky, Joan M Teno
Faculty, Staff and Students Publications
Background: People with dementia have high rates of emergency department (ED) and hospital utilization, high mortality and costs, and other poor outcomes. To successfully impact the care trajectories of these patients, health care systems must pragmatically identify the correct target population. This study described patterns of ED utilization by people with dementia and explored the accuracy of administrative data models to predict mortality and costs.
Methods: Retrospective cohort study of a 20% random sample of Traditional Medicare (TM) beneficiaries with dementia, age ≥ 66 years, and an index ED visit in 2018. One-year mortality and high costs were described, and …
Testing And Evaluation Of Generative Large Language Models In Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Wenyu Zhang, Xinyi Wang, Xinyu Chen, Hao Guan, John Lian, Pengyu Hong, David W Bates, Li Zhou
Testing And Evaluation Of Generative Large Language Models In Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Wenyu Zhang, Xinyi Wang, Xinyu Chen, Hao Guan, John Lian, Pengyu Hong, David W Bates, Li Zhou
Faculty, Staff and Students Publications
Background: The use of generative large language models (LLMs) with electronic health record (EHR) data is rapidly expanding to support clinical and research tasks. This systematic review characterizes the clinical fields and use cases that have been studied and evaluated to date.
Methods: We followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines to conduct a systematic review of articles from PubMed and Web of Science published between January 1, 2023, and November 9, 2024. Studies were included if they used generative LLMs to analyze real-world EHR data and reported quantitative performance evaluations. Through data extraction, we identified …
Defining The Society Of Pediatric Liver Transplantation (Split) Research Agenda: A Delphi Consensus Project, Katryn N Furuya, Kayla Hartjes, Chaowapong Jarasvaraparn, Beau Kelly, Stacee M Lerret, Krupa Mysore, Arti Pawaria, Philip Rosenthal, Amy Shui, Voytek Slowik, Sarah Taylor, Jennifer Vittorio, Pamela L Valentino
Defining The Society Of Pediatric Liver Transplantation (Split) Research Agenda: A Delphi Consensus Project, Katryn N Furuya, Kayla Hartjes, Chaowapong Jarasvaraparn, Beau Kelly, Stacee M Lerret, Krupa Mysore, Arti Pawaria, Philip Rosenthal, Amy Shui, Voytek Slowik, Sarah Taylor, Jennifer Vittorio, Pamela L Valentino
Faculty, Staff and Students Publications
Background: Despite major advances in surgical and medical management, only one-third of pediatric liver transplant (LT) recipients remain morbidity-free at 10 years. The Society of Pediatric Liver Transplantation (SPLIT) published a research agenda over 10 years ago, and much progress has been made since then. An updated consensus-driven SPLIT research agenda could guide future research and funding priorities. We aimed to identify and prioritize key research needs across the continuum of pediatric LT care using a modified Delphi consensus approach.
Methods: We conducted a three-round modified Delphi process among SPLIT members. In round 1, participants submitted open-ended research priorities. In …
Validation And Longitudinal Trajectory Analysis Of An Ai-Based Ecg Model For Aortic Stenosis: From Community Screening To Pre-Ta\Vr Risk Stratification, Stephanie Coulter, Jasen Gilge, Naveed Razvi, Mohammad Saeed, Robert D Paisley, Ambarish Pandey, Mehdi Razavi
Validation And Longitudinal Trajectory Analysis Of An Ai-Based Ecg Model For Aortic Stenosis: From Community Screening To Pre-Ta\Vr Risk Stratification, Stephanie Coulter, Jasen Gilge, Naveed Razvi, Mohammad Saeed, Robert D Paisley, Ambarish Pandey, Mehdi Razavi
Faculty, Staff and Students Publications
Aims: Early aortic stenosis (AS) detection remains challenging, with many patients presenting late when left ventricular dysfunction may be irreversible. We evaluated whether longitudinal AI-enhanced ECG patterns can predict outcomes years before intervention and assessed the community screening potential of the AK-AVS model.
Methods and results: We conducted two complementary analyses: (1) community validation of the AK-AVS model in 3632 cardiovascular disease-free ARIC participants, and (2) longitudinal trajectory analysis of 7860 ECGs from 2040 TAVR recipients collected up to 10 years pre-procedure. Unsupervised clustering identified distinct AK-AVS trajectories, with mortality associations assessed using Cox regression and net reclassification improvement. In …
Development Of Retrieval-Augmented Generation-Based Large Language Model For Drug-Induced Liver Injury Using Livertox Data, Gagan Sood, Terrence E White, Fasiha Kanwal, Hashem B El-Serag
Development Of Retrieval-Augmented Generation-Based Large Language Model For Drug-Induced Liver Injury Using Livertox Data, Gagan Sood, Terrence E White, Fasiha Kanwal, Hashem B El-Serag
Faculty, Staff and Students Publications
Background: Idiosyncratic DILI is a complex clinical challenge requiring timely and accurate decision support. LiverTox, curated by the National Institute of Health (NIH), offers a comprehensive DILI evidence base, but its encyclopedia-like format hinders point-of-care use. Health care providers increasingly use general large language models (LLMs) for clinical care, raising safety concerns due to LLM hallucinations or misinformation. We hypothesize that retrieval-augmented generation (RAG) integration-grounding LLM responses in LiverTox content-would enable accurate DILI decision support.
Methods: We processed 1343 LiverTox drug monographs into 8759 indexed segments using BioBERT embeddings. We developed a RAG pipeline that employs drug-specific prioritization, section-aware weighting, …
Pharmacodynamics, Efficacy, And Safety Of Intraputaminal Eladocagene Exuparvovec Administered To Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using An Mr-Compatible Cannula: 48 Weeks Of Follow-Up, Donald L Gilbert, Sudhakar Vadivelu, Bruria Ben-Zeev, Matthew Vestal, Muhammad Zafar, Chun-Hwei Tai, Sheng-Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin-Hsiu Chien, Paul Wuh-Liang Hwu
Pharmacodynamics, Efficacy, And Safety Of Intraputaminal Eladocagene Exuparvovec Administered To Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using An Mr-Compatible Cannula: 48 Weeks Of Follow-Up, Donald L Gilbert, Sudhakar Vadivelu, Bruria Ben-Zeev, Matthew Vestal, Muhammad Zafar, Chun-Hwei Tai, Sheng-Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin-Hsiu Chien, Paul Wuh-Liang Hwu
Faculty, Staff and Students Publications
Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production. Study GT‐002 (NCT04903288) is a phase 2, multicenter, open‐label trial assessing the pharmacodynamics, safety, and efficacy of eladocagene exuparvovec administered to the putamen bilaterally in pediatric patients with AADC deficiency using a magnetic resonance (MR)‐compatible cannula. Patients received eladocagene exuparvovec at 1.8 × 1011 vector genomes via the SmartFlow MR‐compatible cannula in a single operative session. Endpoints include the change from baseline in …
Responsive Neurostimulation In Children, Adolescents, And Young Adults-Longitudinal Effectiveness And Safety, Kimberly Houck, Cristina Trandafir, Matthew J Mcginley, Deepankar Mohanty, James J Riviello, Howard L Weiner, Daniel Curry, Irfan Ali
Responsive Neurostimulation In Children, Adolescents, And Young Adults-Longitudinal Effectiveness And Safety, Kimberly Houck, Cristina Trandafir, Matthew J Mcginley, Deepankar Mohanty, James J Riviello, Howard L Weiner, Daniel Curry, Irfan Ali
Faculty, Staff and Students Publications
Drug-resistant epilepsy (DRE) remains challenging to treat, and seizure control often fluctuates over time. Responsive neurostimulation (RNS) is increasingly used in pediatric and young adult populations, yet long-term effectiveness and safety data are limited. We evaluated longitudinal seizure control trajectories and safety of RNS in children, adolescents, and young adults treated at our center. Seizure frequency was assessed at approximately 6-month intervals from serial follow-up visits through the most recent follow-up, with each sampled visit categorized by ≥ 50 % (all-responder, AR) or ≥90 % (super-responder, SR) seizure reduction. We examined the persistence and durability of seizure control and used …
Health Care Worker-Reported Barriers And Potential Facilitators Of Acute Lower Respiratory Infection Care Deliver For Children At Mchinji District Hospital In Malawi, Karina Hofstee, Nichole Davis, Eric D Mccollum, Charles Makwenda, Carina King
Health Care Worker-Reported Barriers And Potential Facilitators Of Acute Lower Respiratory Infection Care Deliver For Children At Mchinji District Hospital In Malawi, Karina Hofstee, Nichole Davis, Eric D Mccollum, Charles Makwenda, Carina King
Faculty, Staff and Students Publications
Objectives: We sought to understand barriers to high-quality hospital-based child acute lower respiratory infection (ALRI) care at Mchinji District Hospital in Malawi.
Methods: In 2020, we conducted focus group discussions (FGDs) with clinical officers (COs) who provided direct clinical care after a half-day refresher course on pediatric ALRI case management. The underpinning research methodology of the FGDs was phenomenology, and they were analyzed using inductive and deductive thematic analysis.
Results: We recruited 16 COs to participate in three FGDs. Five themes emerged: lack of confidence in ALRI diagnosis and management, high clinical burden with understaffing, dysfunctional team dynamics, limited physical …
Segmental And Multifocal Isolated Dystonias: Similarities And Differences, Gamze Kilic-Berkmen, Joel S Perlmutter, Laura J Wright, Christine Klein, Jeanne S Feuerstein, Steven Bellows, Joseph Jankovic, Cynthia Comella, Richard L Barbano, Aparna Wagle Shukla, Stephen G Reich, Mark S Ledoux, Alberto J Espay, Kevin R Duque, Florence C F Chang, Victor S C Fung, Sarah Pirio-Richardson, Carmen Terranova, Emile S Moukheiber, Sarah Idrissi, Barbara Vitucci, Susan H Fox, Samuel Frank, Natividad Stover, Brian D Berman, Rachel Saunders-Pullman, William G Ondo, Christopher L Groth, Marcello Esposito, Laura Avanzino, Francesco Bono, Roberto Erro, Marcello Mario Mascia, Antonella Muroni, Alfredo Berardelli, Giovanni Defazio
Segmental And Multifocal Isolated Dystonias: Similarities And Differences, Gamze Kilic-Berkmen, Joel S Perlmutter, Laura J Wright, Christine Klein, Jeanne S Feuerstein, Steven Bellows, Joseph Jankovic, Cynthia Comella, Richard L Barbano, Aparna Wagle Shukla, Stephen G Reich, Mark S Ledoux, Alberto J Espay, Kevin R Duque, Florence C F Chang, Victor S C Fung, Sarah Pirio-Richardson, Carmen Terranova, Emile S Moukheiber, Sarah Idrissi, Barbara Vitucci, Susan H Fox, Samuel Frank, Natividad Stover, Brian D Berman, Rachel Saunders-Pullman, William G Ondo, Christopher L Groth, Marcello Esposito, Laura Avanzino, Francesco Bono, Roberto Erro, Marcello Mario Mascia, Antonella Muroni, Alfredo Berardelli, Giovanni Defazio
Faculty, Staff and Students Publications
Background: Whether the traditional distinction between segmental and multifocal dystonia is clinically or scientifically useful remains unclear.
Objective: To evaluate whether idiopathic isolated adult-onset segmental and multifocal dystonia can be differentiated based on clinical features other than the contiguity of affected body regions.
Methods: We compared data on segmental and multifocal dystonia from two large dystonia databases established in the USA and Italy that used similar criteria for patient recruitment and assessment.
Results: Compared to segmental dystonia, multifocal dystonia was characterized by a higher proportion of men, a younger age at dystonia onset, a greater frequency of upper limb dystonia, …
Proteomic Signatures Of Cardiac Dysfunction Among People With Diabetes: The Atherosclerosis Risk In Communities Study, Mary R Rooney, Keenan A Walker, Pascal Schlosser, Kuni Matsushita, Morgan E Grams, Christie C Ballantyne, Ron C Hoogeveen, Eric Boerwinkle, Bing Yu, Amil M Shah, Ruth F Dubin, Rajat Deo, Yue Ren, Jerome I Rotter, Kent D Taylor, Wendy S Post, Peter Ganz, Elizabeth Selvin, Josef Coresh
Proteomic Signatures Of Cardiac Dysfunction Among People With Diabetes: The Atherosclerosis Risk In Communities Study, Mary R Rooney, Keenan A Walker, Pascal Schlosser, Kuni Matsushita, Morgan E Grams, Christie C Ballantyne, Ron C Hoogeveen, Eric Boerwinkle, Bing Yu, Amil M Shah, Ruth F Dubin, Rajat Deo, Yue Ren, Jerome I Rotter, Kent D Taylor, Wendy S Post, Peter Ganz, Elizabeth Selvin, Josef Coresh
Faculty, Staff and Students Publications
Background: To investigate the proteomic signatures of heart failure (HF) in diabetes. The underlying mechanisms of the elevated risk of HF in diabetes are unknown.
Methods: In 10 189 ARIC study (Atherosclerosis Risk in Communities) participants free of HF (mean age 57±7 years, 56% women, 22% Black adults, 14% with diabetes), we conducted discovery and internal validation for the associations of 4955 plasma proteins with HF by diabetes status. We performed (1) Cox regression to identify proteins associated with HF by diabetes status, (2) external validation in the MESA study (Multi-Ethnic Study of Atherosclerosis, n=5233, 633 with diabetes), and (3) …
The Diagnostic Performance Of The Basic Versus The Detailed Telomere Flow Fish Test In Young Patients With Aplastic Anaemia, Hannah L Helber, Ghadir S Sasa, Alison A Bertuch
The Diagnostic Performance Of The Basic Versus The Detailed Telomere Flow Fish Test In Young Patients With Aplastic Anaemia, Hannah L Helber, Ghadir S Sasa, Alison A Bertuch
Faculty, Staff and Students Publications
Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real-world performance of the basic test (lymphocytes and granulocytes) versus the detailed test (which includes four lymphocyte subsets) remains unclear. We retrospectively reviewed 439 patients who underwent detailed TL testing at our institution from 2008 to 2022. Haematological disease was present in 87%, with AA comprising 56%. We classified 23 subjects with TBD independently of TL, only one of whom had severe AA (SAA) at initial presentation. …
The Evolving Therapeutic Landscape Of Pcsk9 Inhibition, Frederick J Raal
The Evolving Therapeutic Landscape Of Pcsk9 Inhibition, Frederick J Raal
Faculty, Staff and Students Publications
Cardiovascular disease remains the leading cause of death worldwide with low density lipoprotein being a major, yet modifiable, risk factor. Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a central role in regulating low density lipoprotein (LDL) receptor expression. Naturally occurring loss-of-function variants in the PCSK9 gene result in lifelong lower LDL cholesterol (LDL-C) levels and significantly lower risk of atherosclerotic cardiovascular disease (ASCVD), providing strong genetic validation of PCSK9 as a therapeutic target. This insight has driven the development of therapies directed at PCSK9 for the management of hypercholesterolaemia, particularly in patients who fail to meet LDL-C targets despite maximally …
Impulsivity In Cerebellar Ataxia: An Online, Multidimensional Assessment, Chi-Ying R Lin, Leila Montaser-Kouhsari, William Saban
Impulsivity In Cerebellar Ataxia: An Online, Multidimensional Assessment, Chi-Ying R Lin, Leila Montaser-Kouhsari, William Saban
Faculty, Staff and Students Publications
While considered a motor control structure, the cerebellum contributes to non-motor functions, including impulsivity. However, whether it contributes to impulsivity in a domain-specific manner remains unknown. Studies on cerebellar ataxia (CA), a common model for cerebellar dysfunction, typically have small sample sizes, limiting robustness. In a multicenter cross-sectional study, we investigated the cerebellum's role in various forms of impulsivity by comparing large cohorts of CA to age- and education-matched neurotypical healthy (NH) controls. Additionally, to examine the ability to identify individuals with CA using impulsivity features alone, we developed supervised machine learning (ML) models. In experiment 1 (CA = 140, …
The Impact Of Genetic Testing On Physician Practice In Specialized Cardiovascular Clinics, Scott Spencer, Damon Hostin, Ginger A Metcalf, Richard A Gibbs, Vijay Nambi, Layla A Abushamat, Christie M Ballantyne
The Impact Of Genetic Testing On Physician Practice In Specialized Cardiovascular Clinics, Scott Spencer, Damon Hostin, Ginger A Metcalf, Richard A Gibbs, Vijay Nambi, Layla A Abushamat, Christie M Ballantyne
Faculty, Staff and Students Publications
Background: Although familial hypercholesterolemia (FH) is a US Centers for Disease Control and Prevention tier 1 condition for genetic testing, the impact of testing on clinical outcomes is unclear.
Objective: We aimed to assess whether genetic testing alters lipid management in HeartCare participants.
Methods: For participants with pathogenic/likely pathogenic variants for FH observed at Baylor College of Medicine cardiology clinics, data on laboratory values, medication prescriptions, and diagnoses were collected and compared before and after genetic testing.
Results: In the 20 participants with APOB/LDLR variants and complete data, low-density lipoprotein cholesterol (LDL-C) was numerically lower but not significantly different before …
Examining Sleep-Related Problems In Youth With Misophonia, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick
Examining Sleep-Related Problems In Youth With Misophonia, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick
Faculty, Staff and Students Publications
The relationship between misophonia and sleep-related problems (SRPs) in youth is underexplored. This paucity of research is concerning because SRPs might be elevated among youth with misophonia. If left untreated, SRPs can contribute to long-term health consequences. Thus, in this study we examined the link between misophonia and SRPs in youth aged 8 to 17. In this study, we compared SRPs in 102 children and adolescents with clinically significant misophonia to SRPs in a normative youth sample and a sample of 94 youth with anxiety disorders. We also examined the extent to which SRPs were associated with misophonia severity. Approximately …
Risk Factors For Early-Onset And Late-Onset Dementia: A Prospective Cohort Study, Alden L Gross, Catherine Helmer, Stéphanie Debette, Aïcha Soumaré, M Arfan Ikram, Frank J Wolters, Sudha Seshadri, Claudia L Satizabal, Jayandra Jung Himali, Lenore J Launer, David Li, Djass Mbangdadji, Donald M Lloyd-Jones, Farzaneh A Sorond, Lihui Zhao, Oscar L Lopez, Suzanne E Judd, Timothy M Hughes, Allison E Aiello, Alison Fohner, Archana Singh-Manoux, Behnam Sabayan, James S Pankow, Paul S De Vries, Kristine Yaffe, Alexa Beiser, Abbas Dehghan, Rachel Zmora, Denise Scholtens, Pamela L Lutsey, Norrina B Allen, Richard Maclehose, Sanaz Sedaghat
Risk Factors For Early-Onset And Late-Onset Dementia: A Prospective Cohort Study, Alden L Gross, Catherine Helmer, Stéphanie Debette, Aïcha Soumaré, M Arfan Ikram, Frank J Wolters, Sudha Seshadri, Claudia L Satizabal, Jayandra Jung Himali, Lenore J Launer, David Li, Djass Mbangdadji, Donald M Lloyd-Jones, Farzaneh A Sorond, Lihui Zhao, Oscar L Lopez, Suzanne E Judd, Timothy M Hughes, Allison E Aiello, Alison Fohner, Archana Singh-Manoux, Behnam Sabayan, James S Pankow, Paul S De Vries, Kristine Yaffe, Alexa Beiser, Abbas Dehghan, Rachel Zmora, Denise Scholtens, Pamela L Lutsey, Norrina B Allen, Richard Maclehose, Sanaz Sedaghat
Faculty, Staff and Student Publications
Background: Early-onset dementia (onset before age 65 years) is an important health concern, but much of our understanding of its risk factors is inferred from studies of late-onset dementia (onset after age 65 years). We investigated associations between several demographic, clinical, and lifestyle factors with early-onset dementia and compared those estimates against their associations with late-onset dementia.
Methods: Data from five community-based longitudinal cohort studies from the UK and USA were pooled and rigorously harmonised: UK Biobank, Atherosclerosis Risk in Communities Study, Framingham Heart Study, Multi-Ethnic Study of Atherosclerosis, and Whitehall II Study. Dementia was ascertained via hospitalisation and death …
Marginal Dispositions And Shared Decision-Making Among Older Adults In The Ed: A Prospective Cohort Study, Adam Rodman, Aanand D Naik, Elizabeth Schoenfeld, Kei Ouchi, Mara A Schonberg
Marginal Dispositions And Shared Decision-Making Among Older Adults In The Ed: A Prospective Cohort Study, Adam Rodman, Aanand D Naik, Elizabeth Schoenfeld, Kei Ouchi, Mara A Schonberg
Faculty, Staff and Student Publications
Background: ED disposition decisions for older adults are complex and often uncertain, yet studies rarely capture emergency physicians' real-time perspectives.
Objective: To assess patient outcomes based on emergency physician-perceived need for admission.
Design: Single-site prospective cohort study conducted between July and November 2024.
Setting: A Boston-area academic tertiary care ED.
Participants: Patients aged 65 and older dispositioned by attending physicians, excluding patients who were handed off, left without being seen, or eloped.
Measurements: Physicians rated admission need using a 5-point Likert scale (2-4 considered marginal). Primary outcome was ED disposition stratified by rating. Secondary outcomes were hospital length-of-stay (LOS), 7-day …
Hyperpolypharmacy And Readmission Risk Among Medicare Beneficiaries: The Role Of Postdischarge Care, Robert O Morgan
Hyperpolypharmacy And Readmission Risk Among Medicare Beneficiaries: The Role Of Postdischarge Care, Robert O Morgan
Faculty, Staff and Student Publications
Objectives: Medication reconciliation post discharge may reduce readmission risk in populations with multimorbidity and polypharmacy. We aimed to evaluate the association between hyperpolypharmacy and 30-day readmissions; determine the impact of postdischarge care on 30-day readmissions; and identify interactions among hyperpolypharmacy, postdischarge care, and 30-day readmissions in 2 Medicare populations: individuals 65 years and older and individuals of any age with a qualifying disability.
Study design: Retrospective observational study using the 5% national sample Medicare fee-for-service claims data from 2016 to 2019.
Methods: We used descriptive statistics and generalized estimating equation models adjusted for covariates to assess the relationships among hyperpolypharmacy, …
Early Behavioral And Cognitive Changes In Patients With Pathologically Confirmed Alzheimer Disease, Lewy Body Dementia, And Mixed Dementia, Wen Tang, Chixiang Chen, James B Leverenz, Jagan A Pillai
Early Behavioral And Cognitive Changes In Patients With Pathologically Confirmed Alzheimer Disease, Lewy Body Dementia, And Mixed Dementia, Wen Tang, Chixiang Chen, James B Leverenz, Jagan A Pillai
Faculty, Staff and Student Publications
Background and objectives: Alzheimer's disease pathology (ADP) and Lewy body pathology (LBP) are traditionally associated with distinct cognitive profiles. However, growing evidence highlights the role of behavioral and psychological symptoms of dementia (BPSD) in shaping clinical presentations. The combined influence of cognitive and behavioral symptoms across neuropathologically confirmed ADP, LBP, and mixed AD-LBP has not been systematically examined. This study aimed to identify clinically meaningful subtypes by jointly analyzing cognitive performance and BPSD profiles in individuals with autopsy-confirmed dementia pathology.
Methods: This retrospective longitudinal cohort study used data from the National Alzheimer Coordinating Center (NACC), collected across multiple U.S. Alzheimer's …
Brief Report: Long-Acting Injectable Prep Can Substantially Reduce Hiv Incidence In Los Angeles County: A Simulation Study, Anna Hotton, Siri Chirumamilla, Ekow Kwa Sey, Nina T Harawa
Brief Report: Long-Acting Injectable Prep Can Substantially Reduce Hiv Incidence In Los Angeles County: A Simulation Study, Anna Hotton, Siri Chirumamilla, Ekow Kwa Sey, Nina T Harawa
Faculty, Staff and Student Publications
Background: Although oral pre-exposure prophylaxis (PrEP) has been instrumental in decreasing HIV incidence, its daily dosing regimen poses adherence challenges. Using an agent-based network model informed by empirical data, we simulate the impact of introducing long-acting injectable (LAI) PrEP among young Black men who have sex with men (YBMSM) in Los Angeles County, a group disproportionately affected by HIV.
Setting: Computer simulations using an agent-based network model.
Methods: We modeled HIV transmission among YBMSM over 10 years under scenarios varying the proportion of PrEP users opting for LAI instead of oral medications and adherence levels to LAI retention. The model …
Associations Of Moderate-To-Vigorous Physical Activity Timing With Type 2 Diabetes Incidence In Uk Biobank And Prevalent Glycemic Measures In Nhanes, Heming Wang, Martin K Rutter, Charles E Matthews, Joshua R Freeman, Ko Willems Van Dijk, Diana Van Heemst, Raymond Noordam
Associations Of Moderate-To-Vigorous Physical Activity Timing With Type 2 Diabetes Incidence In Uk Biobank And Prevalent Glycemic Measures In Nhanes, Heming Wang, Martin K Rutter, Charles E Matthews, Joshua R Freeman, Ko Willems Van Dijk, Diana Van Heemst, Raymond Noordam
Faculty, Staff and Student Publications
Objective: We assessed the association between timing of moderate-to-vigorous physical activity (MVPA) with incident type 2 diabetes (T2D) and glycemic measures.
Research design and methods: Regression models were used to assess associations between accelerometer-derived MVPA timing and incident T2D in UK Biobank (UKB) (n = 84,528, prospective), prevalent diabetes, and glycemic measures in the National Health and Nutrition Examination Survey (NHANES) (n = 6,998, cross-sectional).
Results: In UKB, with early morning (0500-0959) MVPA as reference and before adjustment for total MVPA, "variable-timing" MVPA was associated with the lowest incident T2D risk; while after adjustment, afternoon-evening MVPA (1500-2400) showed the lowest …
The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, Daniela Mccourt, Christina M Croce, Jennifer O Fisher
The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, Daniela Mccourt, Christina M Croce, Jennifer O Fisher
Faculty, Staff and Students Publications
Appetite self-regulation (ASR) among children is thought to have a fundamental role in shaping the development of healthy eating behaviors, dietary intake, and growth during childhood. Parallel to developmental frameworks for understanding "general" self-regulation among children, ASR has been described as involving children's use of "top-down" cognitive processes to moderate "bottom-up" biological drives around food approach and avoidance in the interest of achieving desired eating behaviors or outcomes. Whereas bottom-up ASR processes during early childhood are well characterized, particularly in the context of dysregulation and obesity risk, the role of top-down ASR processes in the development of healthy eating behaviors …
Clinical Outcomes Following Stereotactic Mri-Guided Laser Ablation In Children With Tuberous Sclerosis Complex And Intractable Epilepsy, Dave Clarke, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M Ravindra, James J Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T Freiling, Karen Evankovich, Yingchao Yuan, Kalman A Katlowitz, Daniel Curry, Howard L Weiner, Anne Anderson
Clinical Outcomes Following Stereotactic Mri-Guided Laser Ablation In Children With Tuberous Sclerosis Complex And Intractable Epilepsy, Dave Clarke, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M Ravindra, James J Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T Freiling, Karen Evankovich, Yingchao Yuan, Kalman A Katlowitz, Daniel Curry, Howard L Weiner, Anne Anderson
Faculty, Staff and Students Publications
Objective: In children with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE), magnetic resonance imaging-guided stereotactic laser ablation (SLA) therapy offers less-invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long-term outcomes in patients with TSC-related DRE who have undergone SLA.
Methods: Patients with TSC and DRE treated with SLA, between July 1, 2016 and January 1, 2022, at our institution were identified retrospectively. Reduction in number of anti-seizure medications (ASMs), developmental improvement as reported by the patients' families, seizure frequency measured in surgically targeted seizure type and total seizures per day, and Engel …