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Articles 11131 - 11160 of 76841

Full-Text Articles in Medical Specialties

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 …


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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 Jan 2025

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 …


Placentas From Sars-Cov-2 Infection During Pregnancy Exhibit Foci Of Oxidative Stress And Dna Damage, Guilherme M Nobrega, Eliza R Mccoll, Arthur Antolini-Tavares, Renato T Souza, José Guilherme Cecatti, Maria Laura Costa, Indira U Mysorekar Jan 2025

Placentas From Sars-Cov-2 Infection During Pregnancy Exhibit Foci Of Oxidative Stress And Dna Damage, Guilherme M Nobrega, Eliza R Mccoll, Arthur Antolini-Tavares, Renato T Souza, José Guilherme Cecatti, Maria Laura Costa, Indira U Mysorekar

Faculty, Staff and Students Publications

Problem: COVID-19 during pregnancy is linked to increased maternal morbidity and a higher incidence of preterm births (PTBs), yet the underlying mechanisms remain unclear. Cellular senescence, characterized by the irreversible cessation of cell division, is a critical process in placental function, and its dysregulation has been implicated in pregnancy complications like PTB. Senescence can be induced by various stressors, including oxidative stress, DNA damage, and viral infections.

Method of study: In this study, we determined whether COVID-19 had an impact on placental senescence. We examined placentas from women infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (n = 10 …


The Association Of Human Milk Intake And Outcomes In Biliary Atresia, Mary Elizabeth M Tessier, Jeremy M Schraw, Stacey Beer, Sanjiv Harpavat, M Kyle Jensen, John C Magee, Vicky Ng, Michael E Scheurer, Sarah A Taylor, Benjamin L Shneider Jan 2025

The Association Of Human Milk Intake And Outcomes In Biliary Atresia, Mary Elizabeth M Tessier, Jeremy M Schraw, Stacey Beer, Sanjiv Harpavat, M Kyle Jensen, John C Magee, Vicky Ng, Michael E Scheurer, Sarah A Taylor, Benjamin L Shneider

Faculty, Staff and Students Publications

Objectives: Human milk intake has many benefits which could influence outcomes in biliary atresia (BA). However, the role of human milk in BA has not been examined. We hypothesized that human milk intake would be associated with improved outcomes in BA.

Methods: We assessed the impact of any human milk (AHM) as compared to formula only (FO) intake before Kasai portoenterostomy (KP) on outcomes in 447 infants with BA using the PROBE database (NCT00061828) post hoc. The primary outcome was clearance of jaundice (COJ = total bilirubin (TB) < 2 mg/dL by 3 months post-KP). Secondary outcomes included 2-year survival with native liver (SNL), bilirubin levels, cholangitis, ascites, and growth. We assessed the fecal microbiome (n = 8) comparing AHM versus FO.

Results: At baseline, 211 infants received AHM and 215 received …


Delayed Excretion Of High-Dose Methotrexate In Pediatric Acute Leukemia Correlates With Laxative And Constipation Management, Jennifer A Belsky, Ashley Chavana, Ankona Banerjee, Mark Zobeck, Eric S Schafer, Karen R Rabin, Monica Gramatges, Alex Sim, Audrey Leisinger, Trisha Reddy, Megan J Parod, Philip Lupo, Michael Scheurer, Austin L Brown, M Brooke Bernhardt Jan 2025

Delayed Excretion Of High-Dose Methotrexate In Pediatric Acute Leukemia Correlates With Laxative And Constipation Management, Jennifer A Belsky, Ashley Chavana, Ankona Banerjee, Mark Zobeck, Eric S Schafer, Karen R Rabin, Monica Gramatges, Alex Sim, Audrey Leisinger, Trisha Reddy, Megan J Parod, Philip Lupo, Michael Scheurer, Austin L Brown, M Brooke Bernhardt

Faculty, Staff and Students Publications

Background: Delayed excretion of high-dose methotrexate (HD-MTX) in pediatric acute lymphoblastic leukemia (ALL) can result in significant morbidity. While methotrexate is primarily renally excreted, HD-MTX may overwhelm renal excretion and increase reliance on fecal elimination. This study evaluated the association between laxative use for constipation and delayed excretion of HD-MTX.

Methods: This multisite chart review included pediatric patients with ALL (2010-2020) who received HD-MTX (5 g/m2). Delayed excretion was defined as a serum MTX concentration greater than 0.4 µM at Hour 48. We identified use of laxative medications after each HD-MTX infusion, with receipt of two or more doses considered …


Designing And Implementing Solution-Oriented Team Science Initiatives-A Chronic Pain Example, Nele A Haelterman, Armen N Akopian, Kyle D Allen, Yenisel Cruz-Almeida, Christopher R Donnelly, Brendan Lee, Rebecca Lenzi, Anne-Marie Malfait, Marie Mancini, Maryann E Martone, Joost B Wagenaar, Kim C Worley Jan 2025

Designing And Implementing Solution-Oriented Team Science Initiatives-A Chronic Pain Example, Nele A Haelterman, Armen N Akopian, Kyle D Allen, Yenisel Cruz-Almeida, Christopher R Donnelly, Brendan Lee, Rebecca Lenzi, Anne-Marie Malfait, Marie Mancini, Maryann E Martone, Joost B Wagenaar, Kim C Worley

Faculty, Staff and Students Publications

Large, collaborative projects that combine researchers from multiple scientific disciplines have become an integral part of the scientific endeavor. While transdisciplinary team science projects hold great potential, they also come with a unique set of challenges compared to monodisciplinary projects. The Science of Team Science (SciTS) field has developed multiple conceptual models and frameworks that guide the design, implementation, and evaluation of team science initiatives to maximize their potential for making breakthrough discoveries and creating solutions for complex problems. While these conceptual models contain a trove of valuable information for successful team science, guidance on how to effectively implement them …


Nanoparticle Contrast Agents For Photon-Counting Computed Tomography: Recent Developments And Future Opportunities, Laxman Devkota, Rohan Bhavane, Cristian T Badea, Eric A Tanifum, Ananth V Annapragada, Ketan B Ghaghada Jan 2025

Nanoparticle Contrast Agents For Photon-Counting Computed Tomography: Recent Developments And Future Opportunities, Laxman Devkota, Rohan Bhavane, Cristian T Badea, Eric A Tanifum, Ananth V Annapragada, Ketan B Ghaghada

Faculty, Staff and Students Publications

The clinical availability of photon-counting computed tomography (PCCT) has ushered in a new era of CT imaging. Spectral imaging coupled with superior contrast resolution, and ultrahigh spatial resolution (200 μm) offered by PCCT has the potential to revolutionize value-driven imaging. The potential of multicolor PCCT has generated excitement, and renewed interest, in novel contrast agent development for comprehensive disease interrogation, prediction and monitoring of treatment outcomes. Nanoparticles provide a versatile and powerful platform for the development of next generation contrast agents for spectral PCCT. In this article, we review recent developments and use of nanoparticle contrast agents for PCCT. We …


Mutations In Retinal Cyclic Nucleotide-Gated Channels Identified In Familial Cases Of Inherited Retinal Dystrophies From Pakistan, Zainab Akhtar, Kiran Afshan, Yumei Li, Sumaira Altaf, Aleesha Asghar, Ume Sughra, Wajid Ali Khan, Haiba Kaul, Rui Chen, Sabika Firasat Jan 2025

Mutations In Retinal Cyclic Nucleotide-Gated Channels Identified In Familial Cases Of Inherited Retinal Dystrophies From Pakistan, Zainab Akhtar, Kiran Afshan, Yumei Li, Sumaira Altaf, Aleesha Asghar, Ume Sughra, Wajid Ali Khan, Haiba Kaul, Rui Chen, Sabika Firasat

Faculty, Staff and Students Publications

Purpose: Cyclic nucleotide-gated (CNG) channels are ligand-gated ion channels that transduce light signals into electrical signals in the retinal photoreceptors. Pathogenic variants in CNG channel genes are reported to cause inherited retinal dystrophies (IRDs). The current study used targeted panel sequencing to describe the mutational spectrum of CNG channel genes in familial cases of IRDs from eight consanguineous Pakistani families.

Methods: The current study included consanguineous Pakistani families with at least two affected members. DNA was extracted from whole blood samples by the phenol-chloroform method. Two affected members from each family were initially analyzed using targeted panel sequencing of 344 …


Assessing The Cardioprotective Effects Of Exercise In Apoe Mouse Models Using Deep Learning And Photon-Counting Micro-Ct, Alex J Allphin, Rohan Nadkarni, Zay Y Han, Darin P Clark, Ketan B Ghaghada, Alexandra Badea, Cristian T Badea Jan 2025

Assessing The Cardioprotective Effects Of Exercise In Apoe Mouse Models Using Deep Learning And Photon-Counting Micro-Ct, Alex J Allphin, Rohan Nadkarni, Zay Y Han, Darin P Clark, Ketan B Ghaghada, Alexandra Badea, Cristian T Badea

Faculty, Staff and Students Publications

Background: The allelic variations of the apolipoprotein E (APOE) gene play a critical role in regulating lipid metabolism and significantly impact cardiovascular disease risk (CVD). This study aimed to evaluate the impact of exercise on cardiac structure and function in mouse models expressing different APOE genotypes using photon-counting computed tomography (PCCT) and deep learning-based segmentation.

Methods: A total of 140 mice were grouped based on APOE genotype (APOE2, APOE3, APOE4), sex, and exercise regimen. All mice were maintained on a controlled diet to isolate the effects of exercise. Low dose cardiac photon counting micro-CT imaging with intrinsic gating was performed …


Exercise Mitigates High-Fat Diet-Induced Cardiac Dysfunction Via Apoe Genotype- And Immune-Dependent Mechanisms: A Photon-Counting Ct Study In Adult Mice, Rohan Nadkarni, Alex J Allphin, Darin P Clark, Yi Qi, Zay Yar Han, Ketan B Ghaghada, Alexandra Badea, Cristian T Badea Jan 2025

Exercise Mitigates High-Fat Diet-Induced Cardiac Dysfunction Via Apoe Genotype- And Immune-Dependent Mechanisms: A Photon-Counting Ct Study In Adult Mice, Rohan Nadkarni, Alex J Allphin, Darin P Clark, Yi Qi, Zay Yar Han, Ketan B Ghaghada, Alexandra Badea, Cristian T Badea

Faculty, Staff and Students Publications

Background: Cardiovascular dysfunction frequently accompanies aging and is often worsened by adverse lifestyle factors and genetic susceptibility. The apolipoprotein E (APOE) gene modulates susceptibility to cardiovascular disease, but how exercise and diet interact with APOE genotype remains insufficiently understood. We investigate the cardioprotective potential of exercise in humanized APOE-targeted replacement mice on control and high-fat diet, using photon-counting computed tomography (PCCT) and deep learning-based image segmentation.

Methods: This study included 251 male and female mice in mid-to-late life of APOE2, APOE3, and APOE4 genotypes with variation in humanized NOS2 (HN) mediated innate immune response, exercise status (exercised vs. sedentary) and …


Structural Dynamics And Binding Of Caenorhabditis Elegans Lifespan-Extending Lipid Binding Protein-3 To Polyunsaturated Fatty Acids, André R Cuevas, Matthew C Tillman, Meng C Wang, Eric A Ortlund Jan 2025

Structural Dynamics And Binding Of Caenorhabditis Elegans Lifespan-Extending Lipid Binding Protein-3 To Polyunsaturated Fatty Acids, André R Cuevas, Matthew C Tillman, Meng C Wang, Eric A Ortlund

Faculty, Staff and Students Publications

Intracellular lipid binding proteins (iLBPs) play crucial roles in lipid transport and cellular metabolism across the animal kingdom. Recently, a fat‐to‐neuron axis was described in Caenorhabditis elegans, in which lysosomal activity in the fat liberates polyunsaturated fatty acids (PUFAs) that signal to neurons and extend lifespan with durable fecundity. In this study, we investigate the structure and binding mechanisms of a lifespan‐extending lipid chaperone, lipid binding protein‐3 (LBP‐3), which shuttles dihomo‐γ‐linolenic (DGLA) acid from intestinal fat to neurons. We present the first high‐resolution crystal structure of LBP‐3, which reveals a classic iLBP fold with an unexpected and unique homodimeric …


Averting Collapse: Reimagining The Ntds Ecosystem Through G20 Health Diplomacy And Science Innovation, Maple Goh, Peter J Hotez Jan 2025

Averting Collapse: Reimagining The Ntds Ecosystem Through G20 Health Diplomacy And Science Innovation, Maple Goh, Peter J Hotez

Faculty, Staff and Students Publications

The recent termination of the U.S. Government's neglected topical diseases (NTD) mass treatment program, following similar cuts by the UK, threatens decades of progress. Without a strategic reset, NTDs may re-emerge, exacerbating poverty across Africa and beyond. We call for a broadened donor base and reframing NTD control as a shared global interest, especially as NTDs rise in G20 nations due to climate change and urbanization. This moment demands investment in sustainable tools, like NextGen vaccines and biologics, and greater leadership from G20 countries. While USAID's exit is a setback, opportunities arise for decolonizing global health and fostering new partnerships.


Internal Carotid Artery Sympathetic Plexus Neurofibroma – A Case Report, Pedram Daniel Maleknia, Victor Lara, Ailiang Zeng, Michael Benjamin Larkin, Vijay Nitturi, Diego Rojas, Sean Lau, Elizabeth Ledbetter, Akash J Patel Jan 2025

Internal Carotid Artery Sympathetic Plexus Neurofibroma – A Case Report, Pedram Daniel Maleknia, Victor Lara, Ailiang Zeng, Michael Benjamin Larkin, Vijay Nitturi, Diego Rojas, Sean Lau, Elizabeth Ledbetter, Akash J Patel

Faculty, Staff and Students Publications

Background: Neurofibromas are benign peripheral nerve sheath tumors most associated with neurofibromatosis type 1 (NF1 ). NF1 is an autosomal dominant disorder resulting from mutations in the NF1 gene located on chromosome 17. While neurofibromas frequently occur in cutaneous or plexiform forms, neurofibromas arising from the sympathetic plexus of the internal carotid artery (ICA) are rare. Only one case of an intracranial sympathetic plexus neurofibroma has been reported in the literature to date. Since most nerve sheath tumors arising from this region are schwannomas, and given the intimate association with the Internal carotid artery (ICA) and surrounding neurovascular structures of …


Cadherin 1 Germline Mutation Co-Occurs With Medullary Thyroid Cancer And Choroid Plexus Papilloma: A Case Report And Review Of Literature, Vijay Nitturi, Sricharan Gopakumar, Hsiang-Chih Lu, Akash J Patel Jan 2025

Cadherin 1 Germline Mutation Co-Occurs With Medullary Thyroid Cancer And Choroid Plexus Papilloma: A Case Report And Review Of Literature, Vijay Nitturi, Sricharan Gopakumar, Hsiang-Chih Lu, Akash J Patel

Faculty, Staff and Students Publications

Background: We describe the case of a 23-year-old woman with a history of medullary thyroid cancer (MTC) who presented with a choroid plexus papilloma (CPP) and review the literature regarding the co-occurrence of these two pathologies.

Case description: A 23-year-old woman with a history of MTC treated with thyroidectomy 3 months prior was referred to neurosurgery with an incidental fourth ventricular mass found on prior imaging of her neck. She presented to the clinic with intermittent headaches and underwent MRI which demonstrated a hyperintense, heterogeneously enhancing lobular mass at the obex of the fourth ventricle. She underwent suboccipital craniotomy and …


Towards A Map Of The Immune System Manipulation Network By Trypanosoma Cruzi, Juan Cruz Gamba, Ana Rosa Pérez, Carolina Verónica Poncini, Cristina Poveda, Iván Marcipar, Gabriel Cabrera Jan 2025

Towards A Map Of The Immune System Manipulation Network By Trypanosoma Cruzi, Juan Cruz Gamba, Ana Rosa Pérez, Carolina Verónica Poncini, Cristina Poveda, Iván Marcipar, Gabriel Cabrera

Faculty, Staff and Students Publications

No abstract provided.


Microbiota Dynamics During Ascaris Suum Larval Migration: Implications For Host Microbial Communities In A Murine Model, Sergio Castañeda, Cristina Poveda, Charlie Suarez-Reyes, Yifan Wu, Noah Haugen, Luz H Patiño, Jill E Weatherhead, Juan David Ramírez Jan 2025

Microbiota Dynamics During Ascaris Suum Larval Migration: Implications For Host Microbial Communities In A Murine Model, Sergio Castañeda, Cristina Poveda, Charlie Suarez-Reyes, Yifan Wu, Noah Haugen, Luz H Patiño, Jill E Weatherhead, Juan David Ramírez

Faculty, Staff and Students Publications

The complex interactions between parasites, their hosts, and associated microbiota hold significant implications for host health and disease outcomes. Helminths like Ascaris lumbricoides and Ascaris suum can significantly alter the host's intestinal microbiota, affecting both parasite biology and host pathology. Despite extensive research on host-microbiota changes due to helminth infections, the study of helminth-associated microbiota remains limited. This study aims to characterize the microbiota associated with Ascaris larvae and surrounding host tissues at distinct developmental stages (day 4, day 8, day 14), during larval migration through the liver, lungs, and intestine, and its impact on the host's microbiota in a …


Critiques Of The Cass Review: Fact-Checking The Peer-Reviewed And Grey Literature, Kathleen Mcdeavitt, J Cohn, Stephen B Levine Jan 2025

Critiques Of The Cass Review: Fact-Checking The Peer-Reviewed And Grey Literature, Kathleen Mcdeavitt, J Cohn, Stephen B Levine

Faculty, Staff and Students Publications

The Cass Review's final report, published in April 2024, made recommendations to the UK's National Health Service regarding structuring of services for minors with gender-related distress. It recommended cautious use of hormonal interventions in this population and use of research protocols. Some clinician-researchers disagree with the Cass Review's recommendations and have written critiques. A critique of the Cass Review posted on Yale Law School's website in July 2024 has received extensive media coverage. Its references identified three other critiques. In these papers, there were multiple claims that were incorrect or that lacked essential clarification/contextualization. These claims involved (1) the Cass …


Correction: Health-Related Quality Of Life After Neonatal Treatment Of Symptomatic Tetralogy Of Fallot: Insights From The Congenital Cardiac Research Collaborative, George T Nicholson, Jeffrey D Zampi, Andrew C Glatz, Bryan H Goldstein, Christopher J Petit, Yun Zhang, Courtney E Mccracken, Athar M Qureshi, Caren S Goldberg, Jennifer C Romano, Mark A Law, Jeffery J Meadows, Shabana Shahanavaz, Sarosh P Batlivala, Shiraz A Maskatia, Asaad Beshish, Michael L O'Byrne, R Allen Ligon, Kathryn O Stack, Hala Q Khan, Shalin Parekh, Dawn L Ilardi Jan 2025

Correction: Health-Related Quality Of Life After Neonatal Treatment Of Symptomatic Tetralogy Of Fallot: Insights From The Congenital Cardiac Research Collaborative, George T Nicholson, Jeffrey D Zampi, Andrew C Glatz, Bryan H Goldstein, Christopher J Petit, Yun Zhang, Courtney E Mccracken, Athar M Qureshi, Caren S Goldberg, Jennifer C Romano, Mark A Law, Jeffery J Meadows, Shabana Shahanavaz, Sarosh P Batlivala, Shiraz A Maskatia, Asaad Beshish, Michael L O'Byrne, R Allen Ligon, Kathryn O Stack, Hala Q Khan, Shalin Parekh, Dawn L Ilardi

Faculty, Staff and Students Publications

No abstract provided.