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Articles 7681 - 7710 of 44978
Full-Text Articles in Medical Sciences
Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott
Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott
Faculty, Staff and Students Publications
Mediator complex subunit 12 (MED12) is required for the assembly of the kinase module of Mediator, a regulatory complex that controls the formation of the RNA polymerase II-mediated preinitiation complex. MED12-related disorders display unique gender-specific genotype-phenotype associations and include X-linked recessive Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, and nonspecific intellectual disability in males predominantly carrying missense variants, and X-linked dominant Hardikar syndrome and nonspecific intellectual disability in females known to predominantly carry de novo nonsense/frameshift and nonsense/missense variants, respectively. MED12 was previously identified as a low-penetrance candidate gene for non-isolated congenital diaphragmatic hernia (CDH+). At the time, however, there was …
Id-Gba: Subgraph Extension With Information Distance Guilt By Association In Complex Networks, Predrag Obradovic, Vladimir Kovacevic, Aleksandar Milosavljevic, Varduhi Petrosyan
Id-Gba: Subgraph Extension With Information Distance Guilt By Association In Complex Networks, Predrag Obradovic, Vladimir Kovacevic, Aleksandar Milosavljevic, Varduhi Petrosyan
Faculty, Staff and Students Publications
Here, we introduce the ID-GBA (Information Distance Guilt By Association) method to expand highly connected sets of nodes by deploying a novel algorithm for subgraph extension based on the guilt-by-association principle and information distance. In this study, ID-GBA was utilized to expand disease clusters, and identify novel disease genes. We first validate its ability to expand related disease sets from disease/disease graphs built using Open Targets' gene association scores. We then analyze disease/control gene expression networks and show that ID-GBA recaptures known disease genes in nine disease/control graphs. Compared to existing methods such as Random Walk with Restarts and Personalized …
A Natural Small Molecule Isoginkgetin Alleviates Hypercholesterolemia And Atherosclerosis By Targeting Acly, Zhidan Zhang, Meijie Chen, Yitong Xu, Zhihua Wang, Zhenghong Liu, Chenyang He, Fanshun Zhang, Xiaojun Feng, Xiayun Ni, Yuanli Chen, Jixia Wang, Xinmiao Liang, Zhifu Xie, Jingya Li, Maciej Banach, Jaroslav Pelisek, Yuqing Huo, Yunhui Hu, Paul C Evans, Li Wang, Xiao-Yu Tian, Jianbo Xiao, Yuhua Shang, Yijun Zheng, Xunde Xian, Jianping Weng, Suowen Xu
A Natural Small Molecule Isoginkgetin Alleviates Hypercholesterolemia And Atherosclerosis By Targeting Acly, Zhidan Zhang, Meijie Chen, Yitong Xu, Zhihua Wang, Zhenghong Liu, Chenyang He, Fanshun Zhang, Xiaojun Feng, Xiayun Ni, Yuanli Chen, Jixia Wang, Xinmiao Liang, Zhifu Xie, Jingya Li, Maciej Banach, Jaroslav Pelisek, Yuqing Huo, Yunhui Hu, Paul C Evans, Li Wang, Xiao-Yu Tian, Jianbo Xiao, Yuhua Shang, Yijun Zheng, Xunde Xian, Jianping Weng, Suowen Xu
Faculty, Staff and Students Publications
Rationale: Atherosclerotic cardiovascular disease (ASCVD) represents the predominant cause of mortality and morbidity globally. Given the established role of hypercholesterolemia as a significant risk factor for ASCVD, the discovery of new lipid-lowering medications is of paramount importance. ATP citrate lyase (ACLY) is a crucial enzyme in cellular metabolism, providing acetyl-CoA as the building block for the biosynthesis of fatty acids and cholesterol. Consequently, it has emerged as a promising drug target for innovative treatments of lipid metabolic disorders.
Methods: Virtual screening of a natural product library was performed to identify small-molecule ACLY inhibitors, leading to the discovery of isoginkgetin (ISOGK). …
Intraocular Lens Power Calculation In Challenging Cases, Jack X Ma, Li Wang, Douglas D Koch
Intraocular Lens Power Calculation In Challenging Cases, Jack X Ma, Li Wang, Douglas D Koch
Faculty, Staff and Students Publications
In this article, we reviewed recently published papers of intraocular lens (IOL) power calculation in special eyes. In short eyes, accurate estimation of effective lens position is critical, and the ZEISS artificial intelligence IOL calculator produces the best outcomes. In long eyes, accuracy has been improved with axial length (AL) adjusted formulas such as the Wang-Koch AL adjustment and newer IOL formulas. In keratoconic eyes, hyperopic refractive outcomes increase with steeper keratometric values, and accuracy is poor in eyes with keratometric values ≥50.0 D. Two keratoconus-specific formulas (Barrett True K for keratoconus and Kane keratoconus) have been introduced. In eyes …
Tools And Methods For Cataract Recognition In Low-Resource Settings: A Narrative Review, Paulina N Truong, Elizabeth A Merlinsky, Nicholas C Maamari, Christina Y Weng, Andrew G Lee
Tools And Methods For Cataract Recognition In Low-Resource Settings: A Narrative Review, Paulina N Truong, Elizabeth A Merlinsky, Nicholas C Maamari, Christina Y Weng, Andrew G Lee
Faculty, Staff and Students Publications
Cataracts are a leading cause of global blindness, with many low-resource populations having poor access to eye care. While much is known regarding surgical access and outcomes, less is understood about the initial detection of operable cataracts in low-resource settings. We performed a comprehensive literature review on existing and emerging cataract screening methods in low- and middle-income countries (LMICs). The search keywords were "cataract detection, diagnosis, assessment, and evaluation in low- and middle- income countries". 1,825 articles were identified and 62 were selected for final inclusion comprising reviews, meta-analyses, and original research studies. Only 12 studies proposed new cataract screening …
Genetic Newborn Screening For Retinoblastoma: A Belgian Initiative Baby Detect, Daniel A Rodriguez, Alex Song, Anshul Bhatnagar, Christina Y Weng
Genetic Newborn Screening For Retinoblastoma: A Belgian Initiative Baby Detect, Daniel A Rodriguez, Alex Song, Anshul Bhatnagar, Christina Y Weng
Faculty, Staff and Students Publications
Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at …
Extrusion Rates And Postoperative Emergency Visits In Tied And Untied Bicanalicular Silicone Stents In Pediatric Lacrimal Surgery, Taimur Siddiqui, Sarah M Kamal, Katherine J Williams, Jiwei Sheng, Richard C Allen
Extrusion Rates And Postoperative Emergency Visits In Tied And Untied Bicanalicular Silicone Stents In Pediatric Lacrimal Surgery, Taimur Siddiqui, Sarah M Kamal, Katherine J Williams, Jiwei Sheng, Richard C Allen
Faculty, Staff and Students Publications
Purpose: The purpose is to compare rates of stent extrusion and emergency visits in tied and untied Crawford stents for pediatric lacrimal surgery.
Methods: This retrospective chart review included 166 eyes of 129 patients from 2018 to 2022. Data collected included tied/untied status, premature prolapse, retention, and time of removal, number of postoperative visits, emergent visits before scheduled follow-up, final follow-up, and surgical success.
Results: Of 166 eyes, 97 received tied stents and 69 received untied stents. Success rates, defined by need for additional surgery and symptoms, were similar between groups. However, untied stents prolapsed more often (P < 0.05) but led to fewer total follow-up visits (P …
Quality Of Life In Young Adults With Type 1 Diabetes, Marissa N Baudino, Samantha A Carreon, Randi Streisand, Tricia Tang, Sarah Lyons, Siripoom Mckay, Barbara J Anderson, Charles G Minard, Sridevi Devaraj, Ashley M Butler, Marisa E Hilliard
Quality Of Life In Young Adults With Type 1 Diabetes, Marissa N Baudino, Samantha A Carreon, Randi Streisand, Tricia Tang, Sarah Lyons, Siripoom Mckay, Barbara J Anderson, Charles G Minard, Sridevi Devaraj, Ashley M Butler, Marisa E Hilliard
Faculty, Staff and Students Publications
Introduction: Challenges of young adulthood with type 1 diabetes (T1D) include transitioning to adult care, increased T1D self-management responsibilities, and normal developmental transitions. Recognizing patterns of health-related quality of life (HRQOL) across a demographically and clinically broad range of young adults with T1D may help identify who needs additional support as they transfer to adult healthcare. We hypothesized that young adults from specific demographic and clinical groups would report lower HRQOL.
Methods: At baseline of a behavioral RCT (≤2 months after last pediatric T1D clinic visit), 100 young adults (Mage=19.9 ± 1.3, MA1c=8.8 ± 2.0 %) self-reported demographics and HRQOL; …
Diagnostic Delay In Type I Autoimmune Pancreatitis: Clinical, Imaging, Endoscopic And Histologic Predictors Of Timely Diagnosis, Andres Urias Rivera, Travis Josephs, Shilpa Jain, Wasseem Skef, Tara Keihanian, Salmaan Jawaid, Wasif Abidi, Kalpesh Patel, Mohamed O Othman, Fares Ayoub
Diagnostic Delay In Type I Autoimmune Pancreatitis: Clinical, Imaging, Endoscopic And Histologic Predictors Of Timely Diagnosis, Andres Urias Rivera, Travis Josephs, Shilpa Jain, Wasseem Skef, Tara Keihanian, Salmaan Jawaid, Wasif Abidi, Kalpesh Patel, Mohamed O Othman, Fares Ayoub
Faculty, Staff and Students Publications
Background: The diagnosis of autoimmune pancreatitis (AIP) can be challenging due to nonspecific symptoms, low sensitivity of serologic markers, and some overlap in presentation with pancreatic ductal adenocarcinoma (PDAC). We aimed to quantify delays in the diagnosis of AIP and identify factors associated with diagnostic delay.
Methods: This was a single-center retrospective study between 2013 and 2023 of adult patients diagnosed with type 1 AIP based on HISORt criteria. Patients were compared to a randomly selected group of controls with PDAC. Data on clinical presentation, lab results, imaging, procedures, and initial treatment regimen were collected. Timing to diagnosis and predictive …
High Tumor Cd161 Expression Predicts A Survival Advantage And Marks A Th1-Skewed Microenvironment, Briana Amicarella Burns, Manasvi Chandra, Vanaja Konduri, William K Decker
High Tumor Cd161 Expression Predicts A Survival Advantage And Marks A Th1-Skewed Microenvironment, Briana Amicarella Burns, Manasvi Chandra, Vanaja Konduri, William K Decker
Faculty, Staff and Students Publications
CD8+CD161+ T-cells exhibit augmented memory and cytolytic properties, mediating enhanced immunity in murine tumor models and improved survival in human non-small cell lung cancer. This T-cell subset might serve as a biomarker of positive response to therapy or even be isolated to augment current immunotherapeutic approaches yet limited knowledge of CD161 expression in human cancers restricts practical application. Here we bioinformatically tested the hypothesis that CD161 expression may be associated with positive outcomes in human cancers and investigated mechanisms underlying any observed advantages. Using TCGA-PANCAN dataset, we analyzed expression of CD161 in over 10,000 human tumors, correlating expression levels with …
The Reprogramming Factor Klf4 In Normal And Malignant Blood Cells, H Daniel Lacorazza
The Reprogramming Factor Klf4 In Normal And Malignant Blood Cells, H Daniel Lacorazza
Faculty, Staff and Students Publications
The Krüppel-like factor 4 (KLF4) is an evolutionarily conserved zinc finger transcription factor that regulates cellular processes in stem cells, epithelial cells, and immune blood cells by controlling gene expression through genetic, epigenetic, and chromatin remodeling. The landmark 2006 publication identified KLF4 as one of the factors involved in reprogramming differentiated cells into pluripotent stem cells, sparking increased interest in KLF4 research a decade after its discovery, particularly in the fields of stem cell research, epithelial cell biology, endothelial cell function, and tumorigenesis. Over the years, KLF4 has emerged as a key transcription factor in modulating innate and adaptive immunity, …
Editorial: Exploring Klf4’S Role In Immune Cell Function And Disease Progression, H Daniel Lacorazza, Walden Ai
Editorial: Exploring Klf4’S Role In Immune Cell Function And Disease Progression, H Daniel Lacorazza, Walden Ai
Faculty, Staff and Students Publications
No abstract provided.
Towards A Common Approach For Managing Food Allergy And Serious Allergic Reactions (Anaphylaxis) At School. Ga2len And Efa Consensus Statement, Antoine Deschildre, Montserrat Alvaro-Lozano, Antonella Muraro, Marcia Podesta, Debra De Silva, Mattia Giovannini, Simona Barni, Timothy E Dribin, Mónica Sandoval-Ruballos, Aikaterini Anagnostou, Alessandro Fiocchi, Alice Toniolo, Andrew Bird, Angel Sánchez Sanz, Anna Asarnoj, Anna Nowak-Wegrzyn, Berber Vlieg-Boerstra, Brian P Vickery, Carina Venter, Caroline Nilsson, Cecilia Parente, Céline Demoulin, David M Fleischer, Diola Bijlhout, Edward F Knol, Eleanor Garrow, Emma E Cook, Fallon Schultz, Francesca Lazzarotto, Francesca Mori, Gary Wong, Gideon Lack, Graham Roberts, Gustavo Andres Marino, H N G Oude Elberink, Helen A Brough, Hugh A Sampson, Jay Lieberman, Jennifer Gerdts, Jing Zhao, Josefine Gradman, Julia E M Upton, Julie Wang, Kati Palosuo, Kirsi M Järvinen, Kirsten Beyer, Kunling Shen, Laura Polloni, Lianne Mandelbaum, Luciana Kase Tanno, Lucy A Bilaver, Marcus S Shaker, Margitta Worm, Maria Said, Mary Kelly, Mary Jane Marchisotto, Michael Makris, Mikaela Odemyr, Montserrat Fernandez-Rivas, Motohiro Ebisawa, Nandinee Patel, Pablo Rodríguez Del Río, Pakit Vichyanond, Paul Turner, Pete Smith, Pilar Morón Gaspar, R Sharon Chinthrajah, Rima Rachid, Roberta Bonaguro, Ruchi Gupta, Sabine Schnadt, Sakura Sato, Stefania Arasi, Stephanie Leonard, Sung Poblete, Susanne Halken, Thuy-My Le, Guillaume Pouessel, Tracey Dunn, Victoria Cardona, Torsten Zuberbier
Towards A Common Approach For Managing Food Allergy And Serious Allergic Reactions (Anaphylaxis) At School. Ga2len And Efa Consensus Statement, Antoine Deschildre, Montserrat Alvaro-Lozano, Antonella Muraro, Marcia Podesta, Debra De Silva, Mattia Giovannini, Simona Barni, Timothy E Dribin, Mónica Sandoval-Ruballos, Aikaterini Anagnostou, Alessandro Fiocchi, Alice Toniolo, Andrew Bird, Angel Sánchez Sanz, Anna Asarnoj, Anna Nowak-Wegrzyn, Berber Vlieg-Boerstra, Brian P Vickery, Carina Venter, Caroline Nilsson, Cecilia Parente, Céline Demoulin, David M Fleischer, Diola Bijlhout, Edward F Knol, Eleanor Garrow, Emma E Cook, Fallon Schultz, Francesca Lazzarotto, Francesca Mori, Gary Wong, Gideon Lack, Graham Roberts, Gustavo Andres Marino, H N G Oude Elberink, Helen A Brough, Hugh A Sampson, Jay Lieberman, Jennifer Gerdts, Jing Zhao, Josefine Gradman, Julia E M Upton, Julie Wang, Kati Palosuo, Kirsi M Järvinen, Kirsten Beyer, Kunling Shen, Laura Polloni, Lianne Mandelbaum, Luciana Kase Tanno, Lucy A Bilaver, Marcus S Shaker, Margitta Worm, Maria Said, Mary Kelly, Mary Jane Marchisotto, Michael Makris, Mikaela Odemyr, Montserrat Fernandez-Rivas, Motohiro Ebisawa, Nandinee Patel, Pablo Rodríguez Del Río, Pakit Vichyanond, Paul Turner, Pete Smith, Pilar Morón Gaspar, R Sharon Chinthrajah, Rima Rachid, Roberta Bonaguro, Ruchi Gupta, Sabine Schnadt, Sakura Sato, Stefania Arasi, Stephanie Leonard, Sung Poblete, Susanne Halken, Thuy-My Le, Guillaume Pouessel, Tracey Dunn, Victoria Cardona, Torsten Zuberbier
Faculty, Staff and Students Publications
GA2LEN and EFA propose minimum specifications for all industrialised countries/regions to work towards to support students with food allergies in educational settings. We reviewed research and legislation and gained feedback from over 100 patient and professional groups. We built shared expectations around: 1. training all school staff about what food allergy is, the symptoms of allergic reactions, what to do in an emergency, and when and how to use and store devices that laypeople can use to administer adrenaline (epinephrine). 2. preventing allergic reactions by using clear labelling on school menus and prepacked and non‐prepacked foods and regular cleaning where …
Refinement Of A Published Gene-Physical Activity Interaction Impacting Hdl-Cholesterol: Role Of Sex And Lipoprotein Subfractions, Kenneth E Westerman, Tuomas O Kilpeläinen, Magdalena Sevilla-Gonzalez, Margery A Connelly, Alexis C Wood, Michael Y Tsai, Kent D Taylor, Stephen S Rich, Jerome I Rotter, James D Otvos, Amy R Bentley, Samia Mora, Hugues Aschard, D C Rao, Charles Gu, Daniel I Chasman, Alisa K Manning
Refinement Of A Published Gene-Physical Activity Interaction Impacting Hdl-Cholesterol: Role Of Sex And Lipoprotein Subfractions, Kenneth E Westerman, Tuomas O Kilpeläinen, Magdalena Sevilla-Gonzalez, Margery A Connelly, Alexis C Wood, Michael Y Tsai, Kent D Taylor, Stephen S Rich, Jerome I Rotter, James D Otvos, Amy R Bentley, Samia Mora, Hugues Aschard, D C Rao, Charles Gu, Daniel I Chasman, Alisa K Manning
Faculty, Staff and Students Publications
Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C). We explored this GxE in the Women’s Genome Health Study (WGHS; N=23,294; the strongest cohort-specific signal in the original meta-analysis), the UK …
Prevalence Of Abuse-Specific Injuries In Infants With Prior Injury Evaluated For Abuse, Nara Cho, Kristin G Crichton, Sara Helwig, Krista K Wheeler, Rachel M Stanley, Megan M Letson, Kristine A Campbell, Angela N Bachim, Colleen J Bressler, Carmen M Coombs, Lori Frasier, Nicole Johnson, Sara Kilbride, Jan Leonard, Daniel M Lindberg, Noelle T Tran, Joanne N Wood, Farah W Brink
Prevalence Of Abuse-Specific Injuries In Infants With Prior Injury Evaluated For Abuse, Nara Cho, Kristin G Crichton, Sara Helwig, Krista K Wheeler, Rachel M Stanley, Megan M Letson, Kristine A Campbell, Angela N Bachim, Colleen J Bressler, Carmen M Coombs, Lori Frasier, Nicole Johnson, Sara Kilbride, Jan Leonard, Daniel M Lindberg, Noelle T Tran, Joanne N Wood, Farah W Brink
Faculty, Staff and Students Publications
Background and objectives: Physical abuse is a common cause of morbidity in infants but is often missed in those with medically minor injuries, increasing the risk for escalating violence. Our objective was to compare the prevalence of abuse-specific injuries among infants with and without prior injuries.
Methods: This is a retrospective, multicenter study of infants (aged < 12 months) undergoing child abuse pediatrics provider (CAP) consultation for suspected physical abuse between 2/2021 and 12/2022 at 10 participating US centers. Encounters were dichotomized into those with and without history of prior injury. The groups were compared for rates of diagnostic screening and prevalence of abuse-specific injuries. The association of prior injuries with identification of abuse-specific injury was assessed using logistic regression controlling for demographics and presence of prior injury.
Results: We identified 2352 eligible encounters (median age: 4.2 months), of which 13% had a history of prior injury. In infants who underwent diagnostic testing, injury identification was significantly higher in those with prior injury (45% vs 22%, P < .05). Adjusting for patient characteristics, the presence of prior injury in infants was associated with higher odds of at least 1 type of abuse-specific injury being identified, compared with those without prior injury (adjusted odds ratio = 2.81, 95% CI = 2.10-3.76).
Conclusion: Infants with prior injury …
The Influence Of Ultra-Widefield 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
The Influence Of Ultra-Widefield 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 …
In Response To Comment On "Older And Better: A Narrative Review Of Successful Aging And Adaptation To Pain In Late Life", Emanuel Narcis Husu
In Response To Comment On "Older And Better: A Narrative Review Of Successful Aging And Adaptation To Pain In Late Life", Emanuel Narcis Husu
Faculty, Staff and Students Publications
No abstract provided.
Primary Polydipsia In A Case Of Genetic Behavioral Variant Frontotemporal Dementia, Yesenia Cantu, Taryn White, Gabriela Austgen, Christine Rizk, Olaoluwa O Okusaga, Melissa B Jones
Primary Polydipsia In A Case Of Genetic Behavioral Variant Frontotemporal Dementia, Yesenia Cantu, Taryn White, Gabriela Austgen, Christine Rizk, Olaoluwa O Okusaga, Melissa B Jones
Faculty, Staff and Students Publications
No abstract provided.
Poststroke Impulsivity: A Narrative Review, Melissa B Jones, Dakota E Broadway, Malena Gimenez-Zapiola, Ricardo E Jorge
Poststroke Impulsivity: A Narrative Review, Melissa B Jones, Dakota E Broadway, Malena Gimenez-Zapiola, Ricardo E Jorge
Faculty, Staff and Students Publications
In this narrative review, the authors examine the multidimensional nature and presentations of impulsivity after stroke. Impulsivity manifests as immediate or premature responses, impaired delayed gratification, perseverance despite punishment, and other displays of impaired emotional and behavioral regulation. The literature on the assessments, outcomes, and treatment of patients with these various manifestations after a cerebrovascular injury is reviewed. Findings from case reports indicate that poststroke impulsivity may manifest across neurobehavioral syndromes that are not well defined in the psychiatric nomenclature, such as alien hand syndrome and atypical impulse control disorders. Overall, impulse control disorders appear to be rare poststroke. Therapeutic …
Feasibility And Impact Of Knowledge-Based Automated Radiotherapy Treatment Planning In Low- And Middle-Income Countries, Awusi Kavuma, Solomon Kibudde, Yao Hao, Baozhou Sun
Feasibility And Impact Of Knowledge-Based Automated Radiotherapy Treatment Planning In Low- And Middle-Income Countries, Awusi Kavuma, Solomon Kibudde, Yao Hao, Baozhou Sun
Faculty, Staff and Students Publications
Background and purpose: A high-quality treatment planning process is crucial in advanced radiotherapy techniques to ensure adequate dose to the target volume (TV) and sparing of organs at risk (OARs). This process often requires intensive labor, creating barriers for deployment in low- and middle-income countries (LMICs). We aimed to establish the feasibility of implementing knowledge-based auto-planning to facilitate clinical efficiency and increase patient throughput in an LMIC.
Materials and methods: We evaluated 60 randomly selected VMAT manual plans (VMPs), including 10 for each of the following sites: head and neck, oesophagus, breast, prostate, cervical, and rectal cancers. Using the same …
A Computational Approach For Intramural Length Estimation In Anomalous Aortic Origin Of A Coronary Artery, Vikram Shah, Lauren Ferrino, Dana Reaves-O'Neal, Tam T Doan, Shagun Sachdeva, Craig G Rusin, Dan Lior, Charles Puelz, Prakash M Masand, Silvana Molossi
A Computational Approach For Intramural Length Estimation In Anomalous Aortic Origin Of A Coronary Artery, Vikram Shah, Lauren Ferrino, Dana Reaves-O'Neal, Tam T Doan, Shagun Sachdeva, Craig G Rusin, Dan Lior, Charles Puelz, Prakash M Masand, Silvana Molossi
Faculty, Staff and Students Publications
Introduction: Anomalous aortic origin of a coronary artery (AAOCA) is associated with sudden cardiac death. The intramural (IM) length is considered high-risk, yet radiologic measurements by computed tomography angiography (CTA) show variable agreement with measurements at surgery. We aimed to develop a semi-automatic computational method to estimate IM length in a retrospective cohort of surgical AAOCA patients.
Methods: In 58 patients [49 right(R), 9 left(L)], CTA images were used to generate 3D segmentations of the aorta and a centerline of the anomalous coronary. The distance from the centerline to the aortic segmentation was calculated. The IM length was estimated from …
A New Interpolated Pseudodifferential Preconditioner For The Helmholtz Equation In Heterogeneous Media, Sebastian Acosta, Tahsin Khajah, Benjamin Palacios
A New Interpolated Pseudodifferential Preconditioner For The Helmholtz Equation In Heterogeneous Media, Sebastian Acosta, Tahsin Khajah, Benjamin Palacios
Faculty, Staff and Students Publications
This paper introduces a new pseudodifferential preconditioner for the Helmholtz equation in variable media with absorption. The pseudodifferential operator is associated with the multiplicative inverse to the symbol of the Helmholtz operator. This approach is well suited for the intermediate and high-frequency regimes. The main novel idea for the fast evaluation of the preconditioner is to interpolate its symbol, not as a function of the (high-dimensional) phase-space variables, but as a function of the wave speed itself. Since the wave speed is a real-valued function, this approach allows us to interpolate in a univariate setting even when the original problem …
Atherogenic Lipoproteins Associate With Loss Of Glycemic Control In Youth-Onset Type 2 Diabetes: Results From The Today Study, Lorraine E Levitt Katz, Samuel S Gidding, James D Otvos, Kimberly L Drews, Fida Bacha, Steven Willi, Santica Marcovina, Siripoom Mckay, Ruth S Weinstock, Today Study Group
Atherogenic Lipoproteins Associate With Loss Of Glycemic Control In Youth-Onset Type 2 Diabetes: Results From The Today Study, Lorraine E Levitt Katz, Samuel S Gidding, James D Otvos, Kimberly L Drews, Fida Bacha, Steven Willi, Santica Marcovina, Siripoom Mckay, Ruth S Weinstock, Today Study Group
Faculty, Staff and Students Publications
Background: Type 2 diabetes (T2D) in adolescents is associated with an unfavorable lipid profile, but lipoprotein particle subspecies and branched-chain amino acid (BCAA) data are scarce.
Objective: To evaluate lipoprotein particle distributions, lipoprotein insulin resistance index (LP-IR), and BCAA levels longitudinally and their relationships with sex, race/ethnicity, treatment, and loss of glycemic control in adolescents with youth-onset T2D.
Methods: Participants from the TODAY study (n = 348) had samples analyzed yearly for glycated hemoglobin and nuclear magnetic resonance lipoprotein and BCAA assessments.
Results: At baseline, participants with T2D were 13.7 years old with T2D, obesity, and from racial and ethnic …
Impact Of Elevated Serum Triglycerides On Children With Acute Recurrent Or Chronic Pancreatitis From Insppire-2, Zachary M Sellers, Matthew J Giefer, Fuchenchu Wang, Gretchen A Cress, Maisam A Abu-El-Haija, Ankur Chugh, Reuven Z Cohen, Elissa M Downs, Douglas S Fishman, A Jay Freeman, Cheryl E Gariepy, Tanja Y Gonska, Amit S Grover, Doug Lindblad, Quin Y Liu, Asim Maqbool, Jacob A Mark, Brian A Mcferron, Megha S Mehta, Veronique D Morinville, Kenneth Ng, Robert A Noel, Chee Y Ooi, Emily R Perito, Madhura Y Phadke, Wenly Ruan, Sarah Jane Schwarzenberg, David M Troendle, Michael Wilschanski, Yuhua Zheng, Ying Yuan, Mark E Lowe, Aliye Uc, Consortium For The Study Of Chronic Pancreatitis, Diabetes And Pancreatic Cancer
Impact Of Elevated Serum Triglycerides On Children With Acute Recurrent Or Chronic Pancreatitis From Insppire-2, Zachary M Sellers, Matthew J Giefer, Fuchenchu Wang, Gretchen A Cress, Maisam A Abu-El-Haija, Ankur Chugh, Reuven Z Cohen, Elissa M Downs, Douglas S Fishman, A Jay Freeman, Cheryl E Gariepy, Tanja Y Gonska, Amit S Grover, Doug Lindblad, Quin Y Liu, Asim Maqbool, Jacob A Mark, Brian A Mcferron, Megha S Mehta, Veronique D Morinville, Kenneth Ng, Robert A Noel, Chee Y Ooi, Emily R Perito, Madhura Y Phadke, Wenly Ruan, Sarah Jane Schwarzenberg, David M Troendle, Michael Wilschanski, Yuhua Zheng, Ying Yuan, Mark E Lowe, Aliye Uc, Consortium For The Study Of Chronic Pancreatitis, Diabetes And Pancreatic Cancer
Faculty, Staff and Students Publications
Objective: To determine if mild-moderate hypertriglyceridemia (HTG) is associated with increased development of chronic pancreatitis (CP) or pancreatitis-associated complications in children with acute recurrent or CP.
Study design: Longitudinal data from the INternational Study group of Pediatric Pancreatitis: In search for a cuRE-2 (INSPPIRE-2) cohort of children with acute recurrent or CP (n = 559) were analyzed. Subjects were divided into normal triglycerides (< 150 mg/dL; 1.7 mmol/L), any HTG (≥150 mg/dL; ≥1.7 mmol/L), mild-moderate HTG (150-499 mg/dL; 1.7-5.6 mmol/L), moderate HTG (500-999 mg/dL; 5.6-11.3 mmol/L), and severe HTG groups (≥1000 mg/dL; ≥11.3 mmol/L), based on highest serum triglyceride value. Laboratory, imaging, pancreatitis and hospital events, complications, and quality of life data were analyzed.
Results: In children with acute recurrent or CP and HTG, there was no increase in the number of pancreatitis attacks per person-years, nor an increase in CP prevalence. However, HTG severity was associated with increased pancreatic …
Difficulties In Diagnosing Lactose Malabsorption, Richard Kellermayer
Difficulties In Diagnosing Lactose Malabsorption, Richard Kellermayer
Faculty, Staff and Students Publications
No abstract provided.
Correction: Inclusion Of Patient-Centered, Non-Microbiological Endpoints And Biomarkers In Tuberculosis Drug Trials, Andrew R Dinardo, Wilbert Sabiiti, Stephen H Gillespie, Sophia B Georghiou, Norbert Heinrich, Norbert Hittel, Sami Taghlabi, Danna Carrero Longlax, Mikashmi Kohli, Ursula Panzner, Collins Musia, Christoph Lange, Anca Vasiliu, Rob J W Arts, Anna M Mandalakas, Morten Ruhwald, Lieven J Stuyver, Reinout Van Crevel
Correction: Inclusion Of Patient-Centered, Non-Microbiological Endpoints And Biomarkers In Tuberculosis Drug Trials, Andrew R Dinardo, Wilbert Sabiiti, Stephen H Gillespie, Sophia B Georghiou, Norbert Heinrich, Norbert Hittel, Sami Taghlabi, Danna Carrero Longlax, Mikashmi Kohli, Ursula Panzner, Collins Musia, Christoph Lange, Anca Vasiliu, Rob J W Arts, Anna M Mandalakas, Morten Ruhwald, Lieven J Stuyver, Reinout Van Crevel
Faculty, Staff and Students Publications
This corrects the article "Inclusion of patient-centered, non-microbiological endpoints and biomarkers in tuberculosis drug trials", 1570989.
Bearing Witness: Témoignage As A Tool For Child Advocacy During Armed Conflict, Anik Patel, Amber Alayyan, Heather A Haq, Parminder S Suchdev, Naji Hattar, Jeffrey Goldhagen, David J Schonfeld, Tanya Haj-Hassan, Lia Harris, Seema Jilani, Ayesha Kadir, Paul H Wise, Lisa Umphrey
Bearing Witness: Témoignage As A Tool For Child Advocacy During Armed Conflict, Anik Patel, Amber Alayyan, Heather A Haq, Parminder S Suchdev, Naji Hattar, Jeffrey Goldhagen, David J Schonfeld, Tanya Haj-Hassan, Lia Harris, Seema Jilani, Ayesha Kadir, Paul H Wise, Lisa Umphrey
Faculty, Staff and Students Publications
Children affected by armed conflict suffer devastating physical, emotional, and social harm. War uproots families, forcing many to flee as refugees or internally displaced persons, while others remain trapped in dangerous environments. In these crises, children face disproportionate risks-violence, exploitation, disrupted education, and collapsed healthcare systems. Their unique vulnerabilities require urgent, targeted action to protect their health, rights, and development. Beyond immediate care, the humanitarian principle of témoignage-bearing witness-is essential. Rooted in humanitarian ethics, témoignage means speaking out about injustice, amplifying the voices of those affected, and driving systemic change. It challenges traditional notions of neutrality and calls on humanitarian …
Mapping The Functional Network Of Human Cancer Through Machine Learning And Pan-Cancer Proteogenomics, Zhiao Shi, Jonathan T Lei, John M Elizarraras, Bing Zhang
Mapping The Functional Network Of Human Cancer Through Machine Learning And Pan-Cancer Proteogenomics, Zhiao Shi, Jonathan T Lei, John M Elizarraras, Bing Zhang
Faculty, Staff and Students Publications
Large-scale omics profiling has uncovered a vast array of somatic mutations and cancer-associated proteins, posing substantial challenges for their functional interpretation. Here we present a network-based approach centered on FunMap, a pan-cancer functional network constructed using supervised machine learning on extensive proteomics and RNA sequencing data from 1,194 individuals spanning 11 cancer types. Comprising 10,525 protein-coding genes, FunMap connects functionally associated genes with unprecedented precision, surpassing traditional protein-protein interaction maps. Network analysis identifies functional protein modules, reveals a hierarchical structure linked to cancer hallmarks and clinical phenotypes, provides deeper insights into established cancer drivers and predicts functions for understudied cancer-associated …
Efficacy Of Nampt Inhibition In T-Cell Acute Lymphoblastic Leukemia, Chelsea Vrana, Matthew Zhang, Max Rochette, Michelle Alozie, Hailey Oviedo, Alan Gonzalez, Jaden Sherman, Barry Zorman, Pavel Sumazin, Karen R Rabin, Jacob J Junco
Efficacy Of Nampt Inhibition In T-Cell Acute Lymphoblastic Leukemia, Chelsea Vrana, Matthew Zhang, Max Rochette, Michelle Alozie, Hailey Oviedo, Alan Gonzalez, Jaden Sherman, Barry Zorman, Pavel Sumazin, Karen R Rabin, Jacob J Junco
Faculty, Staff and Students Publications
Novel agents targeting upregulated signaling pathways are needed to improve outcomes in T-cell acute lymphoblastic leukemia (T-ALL), since conventional cytotoxic chemotherapy regimens have reached the limits of tolerability. We identified upregulated, targetable signaling pathways common to both human T-ALL samples and a KrasLSL-G12D/+.Mb1Cre/+ murine model of T-ALL. We found the NAMPT inhibitor FK866 had the greatest cytotoxicity of a panel of small molecule inhibitors tested in human and mouse T-ALL cell lines, and in patient derived xenograft (PDX)-expanded T-ALL patient samples. We subsequently tested FK866 in vivo in PDX mouse models of T-ALL, and found that it significantly reduced the …
A Multifunctional Theranostic Ultrasound Platform For Remote Magnetogenetics And Expanded Blood-Brain Barrier Opening, Alec J Batts, Fotios N Tsitsos, Jeannette Ingabire, Guillaume Duret, Samantha L Gorman, Deny Tsakri, Rebecca L Noel, Robin Ji, Nancy Kwon, Quoc-Khanh Pham, Linlin Zhang, Gang Bao, Jacob T Robinson, Elisa E Konofagou
A Multifunctional Theranostic Ultrasound Platform For Remote Magnetogenetics And Expanded Blood-Brain Barrier Opening, Alec J Batts, Fotios N Tsitsos, Jeannette Ingabire, Guillaume Duret, Samantha L Gorman, Deny Tsakri, Rebecca L Noel, Robin Ji, Nancy Kwon, Quoc-Khanh Pham, Linlin Zhang, Gang Bao, Jacob T Robinson, Elisa E Konofagou
Faculty, Staff and Students Publications
Introduction: Brain stimulation techniques are critical for unraveling the innerworkings of complex neuronal pathways governing both normal physiological function and pathologic states in neurological disorders. Focused ultrasound (FUS) is an emerging technique poised to significantly alter central nervous system (CNS) drug delivery and neuroscience research through non-invasive means. Magnetogenetics is a brain stimulation technique which may benefit from FUS technology in that alternating magnetic fields (AMF), like FUS, can pass through the skull without requiring surgery.
Methodology: Magnetogenetics involves the deposition of superparamagnetic iron-oxide nanoparticles (SPIONs) and overexpression of thermoreceptor transmembrane proteins (e.g. TRPV1 and TRPA1) in the brain. When …