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Articles 7111 - 7140 of 18759

Full-Text Articles in Medical Specialties

Human Dna Polymerase Θ Does Not Harbor Intrinsic Nuclease Activity, Denisse Carvajal-Maldonado, Karl Zahn, Ryan Jensen, Richard D Wood, Sylvie Doublié Apr 2024

Human Dna Polymerase Θ Does Not Harbor Intrinsic Nuclease Activity, Denisse Carvajal-Maldonado, Karl Zahn, Ryan Jensen, Richard D Wood, Sylvie Doublié

Faculty, Staff and Student Publications

No abstract provided.


Somatic Mutations Of Esophageal Adenocarcinoma: A Comparison Between Black And White Patients, Hyeyeun Lim, Marie-Claude Gingras, Jing Zhao, Jinyoung Byun, Patricia D Castro, Spiridon Tsavachidis, Jianhong Hu, Harshavardhan Doddapaneni, Yi Han, Donna M Muzny, Richard A Gibbs, Christopher I Amos, Aaron P Thrift Apr 2024

Somatic Mutations Of Esophageal Adenocarcinoma: A Comparison Between Black And White Patients, Hyeyeun Lim, Marie-Claude Gingras, Jing Zhao, Jinyoung Byun, Patricia D Castro, Spiridon Tsavachidis, Jianhong Hu, Harshavardhan Doddapaneni, Yi Han, Donna M Muzny, Richard A Gibbs, Christopher I Amos, Aaron P Thrift

Faculty, Staff and Students Publications

Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to fivefold more common among Whites than Blacks, yet Black patients with EAC have poorer survival rates. The racial disparity remains largely unknown, and there is limited knowledge of mutations in EAC regarding racial disparities. We used whole-exome sequencing to show somatic mutation profiles derived from tumor samples from 18 EAC male patients. We identified three molecular subgroups based on the pre-defined esophageal cancer-specific mutational …


Academic Detailing As A Health Information Technology Implementation Method: Supporting The Design And Implementation Of An Emergency Department-Based Clinical Decision Support Tool To Prevent Future Falls, Hanna J Barton, Apoorva Maru, Margaret A Leaf, Daniel J Hekman, Douglas A Wiegmann, Manish N Shah, Brian W Patterson Apr 2024

Academic Detailing As A Health Information Technology Implementation Method: Supporting The Design And Implementation Of An Emergency Department-Based Clinical Decision Support Tool To Prevent Future Falls, Hanna J Barton, Apoorva Maru, Margaret A Leaf, Daniel J Hekman, Douglas A Wiegmann, Manish N Shah, Brian W Patterson

Faculty, Staff and Student Publications

BACKGROUND: Clinical decision support (CDS) tools that incorporate machine learning-derived content have the potential to transform clinical care by augmenting clinicians' expertise. To realize this potential, such tools must be designed to fit the dynamic work systems of the clinicians who use them. We propose the use of academic detailing-personal visits to clinicians by an expert in a specific health IT tool-as a method for both ensuring the correct understanding of that tool and its evidence base and identifying factors influencing the tool's implementation.

OBJECTIVE: This study aimed to assess academic detailing as a method for simultaneously ensuring the correct …


Cdk8/Cdk19 Promotes Mitochondrial Fission Through Drp1 Phosphorylation And Can Phenotypically Suppress Pink1 Deficiency In Drosophila, Jenny Zhe Liao, Hyung-Lok Chung, Claire Shih, Kenneth Kin Lam Wong, Debdeep Dutta, Zelha Nil, Catherine Grace Burns, Oguz Kanca, Ye-Jin Park, Zhongyuan Zuo, Paul C Marcogliese, Katherine Sew, Hugo J Bellen, Esther M Verheyen Apr 2024

Cdk8/Cdk19 Promotes Mitochondrial Fission Through Drp1 Phosphorylation And Can Phenotypically Suppress Pink1 Deficiency In Drosophila, Jenny Zhe Liao, Hyung-Lok Chung, Claire Shih, Kenneth Kin Lam Wong, Debdeep Dutta, Zelha Nil, Catherine Grace Burns, Oguz Kanca, Ye-Jin Park, Zhongyuan Zuo, Paul C Marcogliese, Katherine Sew, Hugo J Bellen, Esther M Verheyen

Faculty, Staff and Students Publications

Cdk8 in Drosophila is the orthologue of vertebrate CDK8 and CDK19. These proteins have been shown to modulate transcriptional control by RNA polymerase II. We found that neuronal loss of Cdk8 severely reduces fly lifespan and causes bang sensitivity. Remarkably, these defects can be rescued by expression of human CDK19, found in the cytoplasm of neurons, suggesting a non-nuclear function of CDK19/Cdk8. Here we show that Cdk8 plays a critical role in the cytoplasm, with its loss causing elongated mitochondria in both muscles and neurons. We find that endogenous GFP-tagged Cdk8 can be found in both the cytoplasm and nucleus. …


Fourteen-Day Vonoprazan-Based Bismuth Quadruple Therapy For H Pylori Eradication In An Area With High Clarithromycin And Levofloxacin Resistance: A Prospective Randomized Study (Vq-Hp Trial), Nuttapat Tungtrongchitr, Phubordee Bongkotvirawan, Sarita Ratana-Amornpin, Sith Siramolpiwat, Thanee Eiamsitrakoon, Pornpen Gamnarai, Arti Wongcha-Um, Yoshio Yamaoka, Kammal Kumar Pawa, Ratha-Korn Vilaichone Apr 2024

Fourteen-Day Vonoprazan-Based Bismuth Quadruple Therapy For H Pylori Eradication In An Area With High Clarithromycin And Levofloxacin Resistance: A Prospective Randomized Study (Vq-Hp Trial), Nuttapat Tungtrongchitr, Phubordee Bongkotvirawan, Sarita Ratana-Amornpin, Sith Siramolpiwat, Thanee Eiamsitrakoon, Pornpen Gamnarai, Arti Wongcha-Um, Yoshio Yamaoka, Kammal Kumar Pawa, Ratha-Korn Vilaichone

Faculty, Staff and Students Publications

Potassium-competitive acid blockers (P-CABs) provide potent acid inhibition, yet studies on P-CAB-based quadruple therapy for H. pylori eradication are limited. We theorized that integrating bismuth subsalicylate into a quadruple therapy regimen could enhance eradication rates. However, data on the efficacy of vonoprazan bismuth quadruple therapy are notably scarce. Therefore, the aim of this study was to evaluate the efficacy of vonoprazan-based bismuth quadruple therapy in areas with high clarithromycin and levofloxacin resistance. This was a prospective, single-center, randomized trial conducted to compare the efficacy of 7-day and 14-day vonoprazan-based bismuth quadruple therapy for H. pylori eradication between June 1, 2021, …


Improved Data Quality And Statistical Power Of Trial-Level Event-Related Potentials With Bayesian Random-Shift Gaussian Processes, Dustin Pluta, Beniamino Hadj-Amar, Meng Li, Yongxiang Zhao, Francesco Versace, Marina Vannucci Apr 2024

Improved Data Quality And Statistical Power Of Trial-Level Event-Related Potentials With Bayesian Random-Shift Gaussian Processes, Dustin Pluta, Beniamino Hadj-Amar, Meng Li, Yongxiang Zhao, Francesco Versace, Marina Vannucci

Faculty, Staff and Student Publications

Studies of cognitive processes via electroencephalogram (EEG) recordings often analyze group-level event-related potentials (ERPs) averaged over multiple subjects and trials. This averaging procedure can obscure scientifically relevant variability across subjects and trials, but has been necessary due to the difficulties posed by inference of trial-level ERPs. We introduce the Bayesian Random Phase-Amplitude Gaussian Process (RPAGP) model, for inference of trial-level amplitude, latency, and ERP waveforms. We apply RPAGP to data from a study of ERP responses to emotionally arousing images. The model estimates of trial-specific signals are shown to greatly improve statistical power in detecting significant differences in experimental conditions …


High-Performance Cementitious Composites Containing Nanostructured Carbon Additives Made From Charred Coal Fines, Yuan Gao, Viet Hung Pham, Jennifer Weidman, Ki-Joong Kim, Richard E Spaulding, Congjun Wang, Christopher S Matranga Apr 2024

High-Performance Cementitious Composites Containing Nanostructured Carbon Additives Made From Charred Coal Fines, Yuan Gao, Viet Hung Pham, Jennifer Weidman, Ki-Joong Kim, Richard E Spaulding, Congjun Wang, Christopher S Matranga

Faculty, Staff and Student Publications

Carbon-based nanomaterials, such as carbon nanoplatelets, graphene oxide, and carbon quantum dots, have many possible end-use applications due to their ability to impart unique mechanical, electrical, thermal, and optical properties to cement composites. Despite this potential, these materials are rarely used in the construction industry due to high material costs and limited data on performance and durability. In this study, domestic coal is used to fabricate low-cost carbon nanomaterials that can be used economically in cement formulations. A range of chemical and physical processing approaches are employed to control the size, morphology, and chemical functionalization of the carbon nanomaterial, which …


Eye Infection Risks From Pseudomonas Aeruginosa Via Hand Soap And Eye Drops, Anna Gitter, Kristina D Mena, Karla S Mendez, Fuqing Wu, Charles P Gerba Apr 2024

Eye Infection Risks From Pseudomonas Aeruginosa Via Hand Soap And Eye Drops, Anna Gitter, Kristina D Mena, Karla S Mendez, Fuqing Wu, Charles P Gerba

Faculty, Staff and Student Publications

Eye infections from bacterial contamination of bulk-refillable liquid soap dispensers and artificial tear eye drops continue to occur, resulting in adverse health outcomes that include impaired vision or eye enucleation. Pseudomonas aeruginosa (P. aeruginosa), a common cause of eye infections, can grow in eye drop containers and refillable soap dispensers to high numbers. To assess the risk of eye infection, a quantitative microbial risk assessment for P. aeruginosa was conducted to predict the probability of an eye infection for two potential exposure scenarios: (i) individuals using bacteria-contaminated eye drops and (ii) contact lens wearers washing their hands with …


Gut Symbionts Alleviate Mash Through A Secondary Bile Acid Biosynthetic Pathway, Qixing Nie, Xi Luo, Kai Wang, Yong Ding, Shumi Jia, Qixiang Zhao, Meng Li, Jinxin Zhang, Yingying Zhuo, Jun Lin, Chenghao Guo, Zhiwei Zhang, Huiying Liu, Guangyi Zeng, Jie You, Lulu Sun, Hua Lu, Ming Ma, Yanxing Jia, Ming-Hua Zheng, Yanli Pang, Jie Qiao, Changtao Jiang Apr 2024

Gut Symbionts Alleviate Mash Through A Secondary Bile Acid Biosynthetic Pathway, Qixing Nie, Xi Luo, Kai Wang, Yong Ding, Shumi Jia, Qixiang Zhao, Meng Li, Jinxin Zhang, Yingying Zhuo, Jun Lin, Chenghao Guo, Zhiwei Zhang, Huiying Liu, Guangyi Zeng, Jie You, Lulu Sun, Hua Lu, Ming Ma, Yanxing Jia, Ming-Hua Zheng, Yanli Pang, Jie Qiao, Changtao Jiang

Faculty, Staff and Student Publications

The gut microbiota has been found to play an important role in the progression of metabolic dysfunction-associated steatohepatitis (MASH), but the mechanisms have not been established. Here, by developing a click-chemistry-based enrichment strategy, we identified several microbial-derived bile acids, including the previously uncharacterized 3-succinylated cholic acid (3-sucCA), which is negatively correlated with liver damage in patients with liver-tissue-biopsy-proven metabolic dysfunction-associated fatty liver disease (MAFLD). By screening human bacterial isolates, we identified Bacteroides uniformis strains as effective producers of 3-sucCA both in vitro and in vivo. By activity-based protein purification and identification, we identified an enzyme annotated as β-lactamase in B. …


Surface-Functionalized Magnetic Silica-Malachite Tricomposite (Fe–M–Si Tricomposite): A Promising Adsorbent For The Removal Of Cypermethrin, Shaoyu Kong, Min Ouyang, Yi An, Wei Cao, Xiaobo Chen Apr 2024

Surface-Functionalized Magnetic Silica-Malachite Tricomposite (Fe–M–Si Tricomposite): A Promising Adsorbent For The Removal Of Cypermethrin, Shaoyu Kong, Min Ouyang, Yi An, Wei Cao, Xiaobo Chen

Faculty, Staff and Student Publications

Surface charges of catalysts have important influences on the thermodynamics and kinetics of electrochemical reactions. Herein, we develop a modified version of the grand-canonical potential kinetics (GCP-K) method based on density functional theory (DFT) calculations to explore the effect of surface charges on reaction thermodynamics and kinetics. Using the hydrogen evolution reaction (HER) on the Pt(111) surface as an example, we show how to track the change of surface charge in a reaction and how to analyze its influence on the kinetics. Grand-canonical calculations demonstrate that the optimum hydrogen adsorption energy on Pt under the standard hydrogen electrode condition (SHE) …


Inaccurate Diagnosis Of Diabetes Type In Youth: Prevalence, Characteristics, And Implications, Mustafa Tosur, Xiaofan Huang, Audrey S Inglis, Rebecca Schneider Aguirre, Maria J Redondo Apr 2024

Inaccurate Diagnosis Of Diabetes Type In Youth: Prevalence, Characteristics, And Implications, Mustafa Tosur, Xiaofan Huang, Audrey S Inglis, Rebecca Schneider Aguirre, Maria J Redondo

Faculty, Staff and Students Publications

Classifying diabetes at diagnosis is crucial for disease management but increasingly difficult due to overlaps in characteristics between the commonly encountered diabetes types. We evaluated the prevalence and characteristics of youth with diabetes type that was unknown at diagnosis or was revised over time. We studied 2073 youth with new-onset diabetes (median age [IQR] = 11.4 [6.2] years; 50% male; 75% White, 21% Black, 4% other race; overall, 37% Hispanic) and compared youth with unknown versus known diabetes type, per pediatric endocrinologist diagnosis. In a longitudinal subcohort of patients with data for ≥ 3 years post-diabetes diagnosis (n = 1019), …


Linear And Nonlinear Behaviors Of The Photoreceptor Coupled Network, Ji-Jie Pang, Xiaolong Jiang, Samuel M Wu Apr 2024

Linear And Nonlinear Behaviors Of The Photoreceptor Coupled Network, Ji-Jie Pang, Xiaolong Jiang, Samuel M Wu

Faculty, Staff and Students Publications

Photoreceptors are electrically coupled to one another, and the spatiotemporal properties of electrical synapses in a two-dimensional retinal network are still not well studied, because of the limitation of the single electrode or pair recording techniques which do not allow simultaneously measuring responses of multiple photoreceptors at various locations in the retina. A multiple electrode recording system is needed. In this study, we investigate the network properties of the two-dimensional rod coupled array of the salamander retina (both sexes were used) by using the newly available multiple patch electrode system that allows simultaneous recordings from up to eight cells and …


Brafv600e-Mutant Metastatic Nsclc: Disease Overview And Treatment Landscape, David Planchard, Rachel E Sanborn, Marcelo V Negrao, Aria Vaishnavi, Egbert F Smit Apr 2024

Brafv600e-Mutant Metastatic Nsclc: Disease Overview And Treatment Landscape, David Planchard, Rachel E Sanborn, Marcelo V Negrao, Aria Vaishnavi, Egbert F Smit

Faculty, Staff and Student Publications

In this review, we cover the current understanding of BRAF mutations and associated clinical characteristics in patients with metastatic NSCLC, approved and emerging treatment options, BRAF sequencing approaches, and unmet needs. The BRAFV600E mutation confers constitutive activity of the MAPK pathway, leading to enhanced growth, proliferation, and survival of tumor cells. Testing for BRAF mutations enables patients to be treated with therapies that directly target BRAFV600E and the MAPK pathway, but BRAF testing lags behind other oncogene testing in metastatic NSCLC. Additional therapies targeting BRAFV600E mutations provide options for patients with metastatic NSCLC. Emerging therapies and combinations under investigation could …


Revolutionizing Diabetic Foot Ulcer Care: The Senotherapeutic Approach, Guiqin Zhang, Priyadarshani Nadeeshika Samarawickrama, Li Gui, Yuan Ma, Mei Cao, Hong Zhu, Wei Li, Honglin Yang, Kecheng Li, Yang Yang, Enfang Zhu, Wen Li, Yonghan He Apr 2024

Revolutionizing Diabetic Foot Ulcer Care: The Senotherapeutic Approach, Guiqin Zhang, Priyadarshani Nadeeshika Samarawickrama, Li Gui, Yuan Ma, Mei Cao, Hong Zhu, Wei Li, Honglin Yang, Kecheng Li, Yang Yang, Enfang Zhu, Wen Li, Yonghan He

Faculty, Staff and Student Publications

Diabetic foot ulcers (DFUs) are a prevalent and profoundly debilitating complication that afflicts individuals with diabetes mellitus (DM). These ulcers are associated with substantial morbidity, recurrence rates, disability, and mortality, imposing substantial economic, psychological, and medical burdens. Timely detection and intervention can mitigate the morbidity and disparities linked to DFU. Nevertheless, current therapeutic approaches for DFU continue to grapple with multifaceted limitations. A growing body of evidence emphasizes the crucial role of cellular senescence in the pathogenesis of chronic wounds. Interventions that try to delay cellular senescence, eliminate senescent cells (SnCs), or suppress the senescence-associated secretory phenotype (SASP) have shown …


Self-Assembled Sting-Activating Coordination Nanoparticles For Cancer Immunotherapy And Vaccine Applications, Xiaoqi Sun, Xuehui Huang, Kyung Soo Park, Xingwu Zhou, Andrew A Kennedy, Carla D Pretto, Qi Wu, Ziye Wan, Yao Xu, Wang Gong, Jonathan Z Sexton, Andrew W Tai, Yu Leo Lei, James J Moon Apr 2024

Self-Assembled Sting-Activating Coordination Nanoparticles For Cancer Immunotherapy And Vaccine Applications, Xiaoqi Sun, Xuehui Huang, Kyung Soo Park, Xingwu Zhou, Andrew A Kennedy, Carla D Pretto, Qi Wu, Ziye Wan, Yao Xu, Wang Gong, Jonathan Z Sexton, Andrew W Tai, Yu Leo Lei, James J Moon

Faculty, Staff and Student Publications

The cGAS-STING pathway plays a crucial role in innate immune activation against cancer and infections, and STING agonists based on cyclic dinucleotides (CDN) have garnered attention for their potential use in cancer immunotherapy and vaccines. However, the limited drug-like properties of CDN necessitate an efficient delivery system to the immune system. To address these challenges, we developed an immunostimulatory delivery system for STING agonists. Here, we have examined aqueous coordination interactions between CDN and metal ions and report that CDN mixed with Zn2+ and Mn2+ formed distinctive crystal structures. Further pharmaceutical engineering led to the development of a functional coordination …


Microbiome And Cancer Immunotherapies, Haoyan Chen, Laurence Zitvogel, Zhi Peng, Xiaochen Yin, Florencia Mcallister Apr 2024

Microbiome And Cancer Immunotherapies, Haoyan Chen, Laurence Zitvogel, Zhi Peng, Xiaochen Yin, Florencia Mcallister

Faculty, Staff and Student Publications

Here, we present 3 different perspectives on how the microbiome has impacted cancer patients, treatment, and clinical studies. We hear about the challenges of implementing microbiome analyses into the clinics, the impact these analyses might have on patients' care, and treatment in the future, specifically for gastric cancer treatment. These are a few of the many voices that are highlighting the role of the microbiome in cancer development, treatment, and clinical outcomes.


Jennifer A Wargo, Nadim J Ajami, And Carrie R Daniel-Macdougall, Jennifer A Wargo, Nadim J Ajami, Carrie R Daniel-Macdougall Apr 2024

Jennifer A Wargo, Nadim J Ajami, And Carrie R Daniel-Macdougall, Jennifer A Wargo, Nadim J Ajami, Carrie R Daniel-Macdougall

Faculty, Staff and Student Publications

Dr. Jennifer A. Wargo, Dr. Nadim J. Ajami, and Dr. Carrie R. Daniel-MacDougall describe their academic and clinical work on the role of the microbiome to determine response to immunotherapies and discuss current challenges and potential needs to integrate their findings into clinical practice.


Emerging Variants Develop Total Escape From Potent Monoclonal Antibodies Induced By Ba4/5 Infection, Chang Liu, Raksha Das, Aiste Dijokaite-Guraliuc, Daming Zhou, Alexander J Mentzer, Piyada Supasa, Muneeswaran Selvaraj, Helen M E Duyvesteyn, Thomas G Ritter, Nigel Temperton, Paul Klenerman, Susanna J Dunachie, Neil G Paterson, Mark A Williams, David R Hall, Elizabeth E Fry, Juthathip Mongkolsapaya, Jingshan Ren, David I Stuart, Gavin R Screaton Apr 2024

Emerging Variants Develop Total Escape From Potent Monoclonal Antibodies Induced By Ba4/5 Infection, Chang Liu, Raksha Das, Aiste Dijokaite-Guraliuc, Daming Zhou, Alexander J Mentzer, Piyada Supasa, Muneeswaran Selvaraj, Helen M E Duyvesteyn, Thomas G Ritter, Nigel Temperton, Paul Klenerman, Susanna J Dunachie, Neil G Paterson, Mark A Williams, David R Hall, Elizabeth E Fry, Juthathip Mongkolsapaya, Jingshan Ren, David I Stuart, Gavin R Screaton

Faculty, Staff and Student Publications

The rapid evolution of SARS-CoV-2 is driven in part by a need to evade the antibody response in the face of high levels of immunity. Here, we isolate spike (S) binding monoclonal antibodies (mAbs) from vaccinees who suffered vaccine break-through infections with Omicron sub lineages BA.4 or BA.5. Twenty eight potent antibodies are isolated and characterised functionally, and in some cases structurally. Since the emergence of BA.4/5, SARS-CoV-2 has continued to accrue mutations in the S protein, to understand this we characterize neutralization of a large panel of variants and demonstrate a steady attrition of neutralization by the panel of …


Syntaxin 3 Is Haplosufficient For Long-Term Photoreceptor Survival In The Mouse Retina, Tahira Jabeen, Muhammad Shahid Khan, Sana Javaid, Waqar Azeem, Rabia Ayoub, Martin Motola Apr 2024

Syntaxin 3 Is Haplosufficient For Long-Term Photoreceptor Survival In The Mouse Retina, Tahira Jabeen, Muhammad Shahid Khan, Sana Javaid, Waqar Azeem, Rabia Ayoub, Martin Motola

Faculty, Staff and Student Publications

Here, synthesis and thorough characterization of β-NaFeO2 nanoparticles utilizing a co-precipitation technique is presented. XRD analysis confirmed a hexagonal-phase structure of β-NaFeO2. SEM revealed well-dispersed spherical nanoparticles with an average diameter of 45 nm. The FTIR spectrum analysis revealed weak adsorption bands at 1054 cm-1 suggested metal-metal bond stretching (Fe-Na). UV-Visible spectroscopy indicates a 4.4 eV optical band gap. Colloidal stability of β-NaFeO2 was evidenced via Zeta potential (-28.5 mV) and Dynamic Light Scattering (DLS) measurements. BET analysis reveals a substantial 343.27 m2 g-1 surface area with mesoporous characteristics. Antioxidant analysis indicates efficacy comparable to standard antioxidants, while concentration-dependent antibacterial …


Fabrication Of Mos2/Rgo Hybrids As Electrocatalyst For Water Splitting Applications, Muhammad Shahzeb Khan, Tayyaba Noor, Erum Pervaiz, Naseem Iqbal, Neelam Zaman Apr 2024

Fabrication Of Mos2/Rgo Hybrids As Electrocatalyst For Water Splitting Applications, Muhammad Shahzeb Khan, Tayyaba Noor, Erum Pervaiz, Naseem Iqbal, Neelam Zaman

Faculty, Staff and Student Publications

Environmental degradation and energy constraint are important risks to long-term sustainability in the modern world. Water splitting is a vital approach for environmentally friendly and sustainable energy storage, providing a clean way to produce hydrogen without pollutants. Preparing a catalyst that is active, bifunctional, and durable for water splitting is a difficult task. We addressed the difficulty by creating a bifunctional heterogeneous catalyst, MoS2/rGO, with an ideal weight percentage of 5 wt% by a hydrothermal process. The optimized sample showed exceptional electrocatalytic activity, requiring an overpotential of 242 mV and 120 mV to achieve a current density of 10 mA …


Genetic Testing For Supravalvar Aortic Stenosis: What To Do When It Is Not Williams Syndrome, Sara B Stephens, Tyler Novy, Gabrielle N Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A Kozel, Justin Weigand, Shaine A Morris Apr 2024

Genetic Testing For Supravalvar Aortic Stenosis: What To Do When It Is Not Williams Syndrome, Sara B Stephens, Tyler Novy, Gabrielle N Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A Kozel, Justin Weigand, Shaine A Morris

Faculty, Staff and Students Publications

Background: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS).

Methods and results: This retrospective cohort study included patients with SVAS at our institution who had a negative evaluation for WS from May 1991 to September 2021. SVAS was defined as (1) peak supravalvar velocity of ≥2 meters/second, (2) sinotubular junction or ascending aortic Z score < -2.0, or (3) sinotubular junction Z score < -1.5 with family history of SVAS. Patients with complex congenital heart disease, aortic valve disease as the primary condition, or only postoperative SVAS were excluded. Genetic testing and diagnoses were reported. Of 162 patients who were WS negative meeting inclusion criteria, 61 had genetic testing results available (38%). Chromosomal microarray had been performed in 44 of 61 and was nondiagnostic for non-WS causes of SVAS. Sequencing of 1 or more genes was performed in 47 of 61. Of these, 39 of 47 underwent ELN sequencing, 20 of 39 (51%) of whom had a diagnostic variant. Other diagnoses made by gene sequencing were Noonan syndrome (3 PTPN11, 1 RIT1), Alagille …


Successful Percutaneous Thoracic Duct Embolization For Chylothorax After Total Arch Replacement, Fumihiro Kitashima, Naohiro Shimada, Yojiro Machii, Masashi Tanaka Apr 2024

Successful Percutaneous Thoracic Duct Embolization For Chylothorax After Total Arch Replacement, Fumihiro Kitashima, Naohiro Shimada, Yojiro Machii, Masashi Tanaka

The Texas Heart Institute Journal

Chylothorax after cardiac surgery is a rare complication associated with severe morbidity and mortality. This report documents successful treatment with percutaneous thoracic duct embolization for chylothorax after total arch replacement. A 69-year-old man underwent replacement of the aortic arch to treat a ruptured aortic aneurysm. After surgery, the left thoracic drain discharged 2,000 to 3,000 mL serosanguineous fluid per day, even though the patient took nothing orally and was administered subcutaneous octreotide therapy. On postoperative day 9, percutaneous thoracic duct embolization was performed, and the drain could be removed. The chylothorax did not recur, and the patient was discharged on …


Multilocus Pathogenic Variants Contribute To Intrafamilial Clinical Heterogeneity: A Retrospective Study Of Sibling Pairs With Neurodevelopmental Disorders, Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, James R Lupski, Zeynep Coban-Akdemir Apr 2024

Multilocus Pathogenic Variants Contribute To Intrafamilial Clinical Heterogeneity: A Retrospective Study Of Sibling Pairs With Neurodevelopmental Disorders, Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, James R Lupski, Zeynep Coban-Akdemir

Faculty, Staff and Students Publications

BACKGROUND: Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilial phenotypic variability between affected individuals within a nuclear family. In this study, we aim to gain further insights into the influence of MPVs on a disease manifestation in individual research subjects and explore the complexities of the human genome within a familial context.

METHODS: We conducted a systematic reanalysis of exome sequencing data and runs of homozygosity (ROH) regions of 47 sibling pairs previously diagnosed with various neurodevelopmental disorders (NDD). …


Us Population Qualifying For Aspirin Use For Primary Prevention Of Cardiovascular Disease, Athena L Huang, Ann Marie Navar, Colby Ayers, Anand Rohatgi, Erin D Michos, Salim S Virani, Parag Joshi, Eric D Peterson, Amit Khera Apr 2024

Us Population Qualifying For Aspirin Use For Primary Prevention Of Cardiovascular Disease, Athena L Huang, Ann Marie Navar, Colby Ayers, Anand Rohatgi, Erin D Michos, Salim S Virani, Parag Joshi, Eric D Peterson, Amit Khera

Faculty, Staff and Students Publications

Objective: Aspirin has been used for primary prevention of atherosclerotic cardiovascular disease (ASCVD) for decades, but this indication has become controversial with recent trial data. The 2022 US Preventive Services Task Force (USPSTF) provided a recommendation to consider aspirin use for primary prevention in adults 40-59 years with a 10-year ASCVD risk ≥10 % and not at increased risk of bleeding, yet population estimates for the impact of this recommendation are unknown. The objective of this study is to determine the prevalence and demographics of the US population who meet eligibility criteria for aspirin under the new 2022 USPSTF guidelines. …


Multi-Omics Analysis Reveals Immune Features Associated With Immunotherapy Benefit In Patients With Squamous Cell Lung Cancer From Phase Iii Lung-Map S1400i Trial, Edwin Roger Parra, Jiexin Zhang, Dzifa Yawa Duose, Edgar Gonzalez-Kozlova, Mary W Redman, Hong Chen, Ganiraju C Manyam, Gayatri Kumar, Jianhua Zhang, Xingzhi Song, Rossana Lazcano, Mario L Marques-Piubelli, Caddie Laberiano-Fernandez, Frank Rojas, Baili Zhang, Len Taing, Aashna Jhaveri, Jacob Geisberg, Jennifer Altreuter, Franziska Michor, James Provencher, Joyce Yu, Ethan Cerami, Radim Moravec, Kasthuri Kannan, Rajyalakshmi Luthra, Gheath Alatrash, Hsin-Hui Huang, Hui Xie, Manishkumar Patel, Kai Nie, Jocelyn Harris, Kimberly Argueta, James Lindsay, Roshni Biswas, Stephen Van Nostrand, Seunghee Kim-Schulze, Jhanelle E Gray, Roy S Herbst, Ignacio I Wistuba, Scott Gettinger, Karen Kelly, Lyudmila Bazhenova, Sacha Gnjatic, J Jack Lee, Jianjun Zhang, Cara Haymaker Apr 2024

Multi-Omics Analysis Reveals Immune Features Associated With Immunotherapy Benefit In Patients With Squamous Cell Lung Cancer From Phase Iii Lung-Map S1400i Trial, Edwin Roger Parra, Jiexin Zhang, Dzifa Yawa Duose, Edgar Gonzalez-Kozlova, Mary W Redman, Hong Chen, Ganiraju C Manyam, Gayatri Kumar, Jianhua Zhang, Xingzhi Song, Rossana Lazcano, Mario L Marques-Piubelli, Caddie Laberiano-Fernandez, Frank Rojas, Baili Zhang, Len Taing, Aashna Jhaveri, Jacob Geisberg, Jennifer Altreuter, Franziska Michor, James Provencher, Joyce Yu, Ethan Cerami, Radim Moravec, Kasthuri Kannan, Rajyalakshmi Luthra, Gheath Alatrash, Hsin-Hui Huang, Hui Xie, Manishkumar Patel, Kai Nie, Jocelyn Harris, Kimberly Argueta, James Lindsay, Roshni Biswas, Stephen Van Nostrand, Seunghee Kim-Schulze, Jhanelle E Gray, Roy S Herbst, Ignacio I Wistuba, Scott Gettinger, Karen Kelly, Lyudmila Bazhenova, Sacha Gnjatic, J Jack Lee, Jianjun Zhang, Cara Haymaker

Faculty, Staff and Student Publications

PURPOSE: Identifying molecular and immune features to guide immune checkpoint inhibitor (ICI)-based regimens remains an unmet clinical need.

EXPERIMENTAL DESIGN: Tissue and longitudinal blood specimens from phase III trial S1400I in patients with metastatic squamous non-small cell carcinoma (SqNSCLC) treated with nivolumab monotherapy (nivo) or nivolumab plus ipilimumab (nivo+ipi) were subjected to multi-omics analyses including multiplex immunofluorescence (mIF), nCounter PanCancer Immune Profiling Panel, whole-exome sequencing, and Olink.

RESULTS: Higher immune scores from immune gene expression profiling or immune cell infiltration by mIF were associated with response to ICIs and improved survival, except regulatory T cells, which were associated with worse …


Safety Profile And Adverse Event Management For Futibatinib, An Irreversible Fgfr1-4 Inhibitor: Pooled Safety Analysis Of 469 Patients, Funda Meric-Bernstam, Antoine Hollebecque, Junji Furuse, Do-Youn Oh, John A Bridgewater, Masashi Shimura, Bailey Anderson, Nanae Hangai, Volker Wacheck, Lipika Goyal Apr 2024

Safety Profile And Adverse Event Management For Futibatinib, An Irreversible Fgfr1-4 Inhibitor: Pooled Safety Analysis Of 469 Patients, Funda Meric-Bernstam, Antoine Hollebecque, Junji Furuse, Do-Youn Oh, John A Bridgewater, Masashi Shimura, Bailey Anderson, Nanae Hangai, Volker Wacheck, Lipika Goyal

Faculty, Staff and Student Publications

PURPOSE: Futibatinib, a covalently-binding inhibitor of fibroblast growth factor receptor (FGFR)1-4 gained approval for the treatment of refractory, advanced intrahepatic cholangiocarcinoma (iCCA) harboring an FGFR2 fusion/other rearrangement. An integrated analysis was performed to evaluate safety and provide guidance on the management of futibatinib-associated adverse events (AEs) in patients with unresectable/metastatic tumors, including iCCA.

PATIENTS AND METHODS: Data from three global phase I or II studies of futibatinib (NCT02052778; JapicCTI-142552) were pooled. AEs were graded per NCI CTCAE v4.03, where applicable. Safety was analyzed for patients receiving any futibatinib starting dose (overall population) and in those receiving the approved starting dose …


Refractory Chronic Spontaneous Urticaria After Heterologous Covid-19 Booster Vaccination, Miranda Crista Tomaras, Leah Michelle Douglas, Rosa Michelle Schmidt, Maria Suzanne Bloomquist, Abdul Hafeez Diwan, Soo Jung Kim Apr 2024

Refractory Chronic Spontaneous Urticaria After Heterologous Covid-19 Booster Vaccination, Miranda Crista Tomaras, Leah Michelle Douglas, Rosa Michelle Schmidt, Maria Suzanne Bloomquist, Abdul Hafeez Diwan, Soo Jung Kim

Faculty, Staff and Students Publications

Chronic spontaneous urticaria (CSU) involves recurrent, pruritic wheals lasting more than 6 weeks in response to various etiologies, including unknown causality. Though most cutaneous reactions to the COVID-19 vaccine series are self-limited and of short duration, more complex presentations including chronic spontaneous urticaria have been described. To the best of our knowledge, this is the first report of chronic spontaneous urticaria following heterologous mRNA COVID-19 booster vaccination that includes vaccination with both forms of the mRNA vaccine. Our patient received Pfizer-BioNTech for the primary series and Moderna for the booster. After failing several therapies, our patient's urticaria was refractory even …


Proportion Of Cancer Cases And Deaths Attributable To Potentially Modifiable Risk Factors In Peru, Jhony A De La Cruz-Vargas, Willy Ramos, Willer Chanduví, Lucy E Correa-López, Nadia Guerrero, Joan Loayza-Castro, Irene Tami-Maury, Diego Venegas Apr 2024

Proportion Of Cancer Cases And Deaths Attributable To Potentially Modifiable Risk Factors In Peru, Jhony A De La Cruz-Vargas, Willy Ramos, Willer Chanduví, Lucy E Correa-López, Nadia Guerrero, Joan Loayza-Castro, Irene Tami-Maury, Diego Venegas

Faculty, Staff and Student Publications

BACKGROUND: Limited evidence exists on the population attributable fraction (PAF) of cancer cases and deaths in Latin America. In Peru several studies have been published regarding the PAF of various risk factors and their associated diseases. The objective of this study was to estimate the fraction of cancer cases and deaths attributable to potentially modifiable risk factors in Peru in 2018, before the COVID-19 pandemic in the population of 15 years old and older.

METHODS: An ecological study was conducted using the prevalence of exposure of the Peruvian population to modifiable risk factors for cancer, the relative risk associated with …


Effects Of Family Dignity Interventions Combined With Standard Palliative Care On Family Adaptability, Cohesion, And Anticipatory Grief In Adult Advanced Cancer Survivors And Their Family Caregivers: A Randomized Controlled Trial, Nannan Wang, Kun Wang, Xinyu Lu, Shuyu Zhang, Xuhan Sun, Yuxi Zhang Apr 2024

Effects Of Family Dignity Interventions Combined With Standard Palliative Care On Family Adaptability, Cohesion, And Anticipatory Grief In Adult Advanced Cancer Survivors And Their Family Caregivers: A Randomized Controlled Trial, Nannan Wang, Kun Wang, Xinyu Lu, Shuyu Zhang, Xuhan Sun, Yuxi Zhang

Faculty, Staff and Student Publications

BACKGROUND: Family involvement and comfort are equally important in palliative care. Dignity undertook a new meaning and novel challenges as a result of restrictions on visits and companionship during the pandemic. Family-centered family dignity interventions have been shown to be effective in increasing patients' sense of dignity, increasing levels of hope, and reducing psychological distress; however, the effectiveness in enhancing family adaptability and intimacy in the survivor-caregiver binary and reducing expected grief have been inconclusive.

OBJECTIVES: The primary objective of this study was to assess the efficacy of family dignity interventions on family adaptability and cohesion. The secondary objective was …


Icariin Accelerates Bone Regeneration By Inducing Osteogenesis-Angiogenesis Coupling In Rats With Type 1 Diabetes Mellitus, Sheng Zheng, Guan-Yu Hu, Jun-Hua Li, Jia Zheng, Yi-Kai Li Apr 2024

Icariin Accelerates Bone Regeneration By Inducing Osteogenesis-Angiogenesis Coupling In Rats With Type 1 Diabetes Mellitus, Sheng Zheng, Guan-Yu Hu, Jun-Hua Li, Jia Zheng, Yi-Kai Li

Faculty, Staff and Student Publications

BACKGROUND: Icariin (ICA), a natural flavonoid compound monomer, has multiple pharmacological activities. However, its effect on bone defect in the context of type 1 diabetes mellitus (T1DM) has not yet been examined.

AIM: to explore the role and potential mechanism of ICA on bone defect in the context of T1DM.

METHODS: The effects of ICA on osteogenesis and angiogenesis were evaluated by alkaline phosphatase staining, alizarin red S staining, quantitative real-time polymerase chain reaction, Western blot, and immunofluorescence. Angiogenesis-related assays were conducted to investigate the relationship between osteogenesis and angiogenesis. A bone defect model was established in T1DM rats. The …