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Articles 571 - 600 of 5215
Full-Text Articles in Diseases
Outcomes In Pediatric Cholesteatoma, Katherine M Miller, Yi-Chun Carol Liu, Jaqueline E Weinstein, Michael S Cohen, David H Chi, Samantha Anne
Outcomes In Pediatric Cholesteatoma, Katherine M Miller, Yi-Chun Carol Liu, Jaqueline E Weinstein, Michael S Cohen, David H Chi, Samantha Anne
Faculty, Staff and Students Publications
OBJECTIVE: The objective of the study is to evaluate the outcomes of surgical management options for cholesteatoma using a national database.
STUDY DESIGN: Database analysis of the Pediatric Health Information System database to identify children undergoing surgical intervention for cholesteatoma from October 2015 to December 2022.
METHODS: Patients were categorized by initial surgical modality: tympanoplasty (TM), tympanoplasty with canal wall-up tympanomastoidectomy (TM-CWU), and tympanoplasty with canal wall-down tympanomastoidectomy (TM-CWD). Group comparisons were done on number of surgical revisions and number of patients identified with recommendations for hearing aids.
RESULTS: A total of 6304 patients were identified in the database who …
Impact Of Antiparasitic Therapy On Cardiovascular Outcomes In Chronic Chagas Disease A Systematic Review And Meta-Analysis, Anis Rassi, Alyssa Grimshaw, Ashwin Sarwal, Ranjit Sah, Sangam Shah, Nelson I Agudelo Higuita, Fabio Mahamed Rassi, Michaele Francesco Corbisiero, Hannah M Kyllo, Jordan Stellern, Samantha Kaplan, Luis A Marcos, Edgar A Ramírez-García, Martin Casapia, Peter Hotez, Maria Elena Bottazzi, Shital Patel, Carlos Franco-Paredes, José Antonio Marin-Neto, Andrés F Henao-Martínez
Impact Of Antiparasitic Therapy On Cardiovascular Outcomes In Chronic Chagas Disease A Systematic Review And Meta-Analysis, Anis Rassi, Alyssa Grimshaw, Ashwin Sarwal, Ranjit Sah, Sangam Shah, Nelson I Agudelo Higuita, Fabio Mahamed Rassi, Michaele Francesco Corbisiero, Hannah M Kyllo, Jordan Stellern, Samantha Kaplan, Luis A Marcos, Edgar A Ramírez-García, Martin Casapia, Peter Hotez, Maria Elena Bottazzi, Shital Patel, Carlos Franco-Paredes, José Antonio Marin-Neto, Andrés F Henao-Martínez
Faculty, Staff and Students Publications
BACKGROUND: Endemic in more than 20 countries, Chagas disease affects 6.3 million people worldwide, leading to 28,000 new infections and 7700 deaths each year. Previous meta-analyses on antiparasitic treatment need updates to encompass recent studies and to assess key clinically meaningful endpoints. This study aims to evaluate the impact of antitrypanosomal therapy in preventing or reducing disease progression and mortality in chronic Chagas disease.
METHODS: We performed a systematic review and meta-analysis of studies reporting the cardiovascular outcomes of antitrypanosomal therapy in patients with chronic Chagas disease. We searched Ovid Embase, Ovid MEDLINE, Ovid Global Health, Scopus, Web of Science …
Use Of A Mouse Model For The Isolation Of Borrelia Puertoricensis From Soft Ticks, Edwin Vázquez-Guerrero, Alexander R Kneubehl, Guadalupe C Reyes-Solís, Carlos Machain-Williams, Aparna Krishnavajhala, Paulina Estrada-De Los Santos, Job E Lopez, José Antonio Ibarra
Use Of A Mouse Model For The Isolation Of Borrelia Puertoricensis From Soft Ticks, Edwin Vázquez-Guerrero, Alexander R Kneubehl, Guadalupe C Reyes-Solís, Carlos Machain-Williams, Aparna Krishnavajhala, Paulina Estrada-De Los Santos, Job E Lopez, José Antonio Ibarra
Faculty, Staff and Students Publications
The isolation of tick-borne relapsing fever (TBRF) spirochetes has proven to be a useful tool to understand their distribution in geographic areas where the tick vectors inhabit. However, their isolation and culture are not easy and in general an animal model is needed to achieve this task. Here, argasid ticks were collected from a neighborhood in Ciudad Caucel, and they were identified as Ornithodoros (Alectorobius) puertoricensis. To determine whether these were infected with TBRF bacteria they were fed with healthy mice but only a low burden of spirochetes was observed. An immunosuppressed mouse model was used to feed the ticks …
Diagnosis And Management Of Cardiometabolic Disease After Spinal Cord Injury: Identifying Gaps In Physician Training And Practices, Chinenye Christa Nnoromele, Du Pham, Felicia Skelton, Ryan Solinsky
Diagnosis And Management Of Cardiometabolic Disease After Spinal Cord Injury: Identifying Gaps In Physician Training And Practices, Chinenye Christa Nnoromele, Du Pham, Felicia Skelton, Ryan Solinsky
Faculty, Staff and Students Publications
CONTEXT: Cardiometabolic disease (CMD) frequently occurs in individuals with spinal cord injury (SCI), with growing awareness surrounding the expansive scope of this problem. As CMD has significant morbidity and mortality, early guidelines-based screening and management have been established. However, the extent to which these guidelines have been adopted are unclear.
OBJECTIVE: Describe physicians' screening and management pattern for CMD in patients with SCI, as compared to SCI-specific CMD screening guidelines, and elucidate variables linked to screening and management patterns.
METHODS: SCI medicine-boarded physicians were surveyed on screening timing for CMD following acute SCI, along with their practice pattern and comfort …
Visual Acuity, Full-Field Stimulus Thresholds, And Electroretinography For 4 Years In The Rate Of Progression Of Ush2a-Related Retinal Degeneration (Rush2a) Study, David G Birch, Peiyao Cheng, Maureen G Maguire, Jacque L Duncan, Allison R Ayala, Janet K Cheetham, Nicole R Doucet, Todd A Durham, Abigail T Fahim, Frederick L Ferris, Rachel M Huckfeldt, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Katarina Stingl, Ajoy Vincent, Christina Y Weng
Visual Acuity, Full-Field Stimulus Thresholds, And Electroretinography For 4 Years In The Rate Of Progression Of Ush2a-Related Retinal Degeneration (Rush2a) Study, David G Birch, Peiyao Cheng, Maureen G Maguire, Jacque L Duncan, Allison R Ayala, Janet K Cheetham, Nicole R Doucet, Todd A Durham, Abigail T Fahim, Frederick L Ferris, Rachel M Huckfeldt, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Katarina Stingl, Ajoy Vincent, Christina Y Weng
Faculty, Staff and Students Publications
PURPOSE: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the
DESIGN: Prospective natural history study.
PARTICIPANTS: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included.
METHODS: BCVA, FST, fundus-guided microperimetry, static perimetry, and spectral domain OCT were performed annually and ERG at baseline and 4 years only. Mixed effects models were used to estimate annual rates of change with 95% confidence intervals. Associations of change from baseline to 4 years between BCVA, FST, ERG, and other metrics were assessed …
Approved Car-T Therapies Have Reproducible Efficacy And Safety In Clinical Practice, Daniel Goyco Vera, Hiral Waghela, Mohamed Nuh, Jonathan Pan, Premal Lulla
Approved Car-T Therapies Have Reproducible Efficacy And Safety In Clinical Practice, Daniel Goyco Vera, Hiral Waghela, Mohamed Nuh, Jonathan Pan, Premal Lulla
Faculty, Staff and Students Publications
CAR-T cell therapy has established itself as a highly effective treatment for hematological malignancies. There are currently six commercial CAR-T products that have been FDA approved for diseases such as B-ALL, LBCL, MCL, FL, MM, and CLL/SLL. "Real-world" studies allow us to evaluate outcomes from the general population to determine their efficacy and safety compared to those who were included in the original trials. Based on several well conducted "Real-world" studies that represent diverse populations, we report that outcomes from the original trials that led to the approval of these therapies are comparable to those in practice.
The Complexity And Significance Of Fibroblast Growth Factor (Fgf) Signaling For Fgf-Targeted Cancer Therapies, Anh Nguyen, Caroline Facey, Bruce Boman
The Complexity And Significance Of Fibroblast Growth Factor (Fgf) Signaling For Fgf-Targeted Cancer Therapies, Anh Nguyen, Caroline Facey, Bruce Boman
Department of Pharmacology and Experimental Therapeutics Faculty Papers
Fibroblast growth factors (FGFs) have diverse functions in the regulation of cell proliferation and differentiation in development, tissue maintenance, wound repair, and angiogenesis. The goal of this review paper is to (i) deliberate on the role of FGFs and FGF receptors (FGFRs) in different cancers, (ii) present advances in FGF-targeted cancer therapies, and (iii) explore cell signaling mechanisms that explain how FGF expression becomes dysregulated during cancer development. FGF is often mutated and overexpressed in cancer and the different FGF and FGFR isoforms have unique expression patterns and distinct roles in different cancers. Among the FGF members, the FGF 15/19 …
Alcohol-Induced Gut Microbial Reorganization And Associated Overproduction Of Phenylacetylglutamine Promotes Cardiovascular Disease, Zhen Li, Min Gu, Aline Zaparte, Xiaoming Fu, Kala Mahen, Marko Mrdjen, Xinmin S. Li, Zhihong Yang, Jing Ma, Themis Thoudam, Kristina Chandler, Maggie Hesler, Laura Heathers, Kiersten Gorse, Thanh Trung Van, David Wong, Aaron M. Gibson, Zeneng Wang, Christopher M. Taylor, Pearl Quijada, Catherine A. Makarewich, Stanley L. Hazen, Suthat Liangpunsakul, J Mark Brown, David J. Lefer, David A. Welsh, Thomas E. Sharp
Alcohol-Induced Gut Microbial Reorganization And Associated Overproduction Of Phenylacetylglutamine Promotes Cardiovascular Disease, Zhen Li, Min Gu, Aline Zaparte, Xiaoming Fu, Kala Mahen, Marko Mrdjen, Xinmin S. Li, Zhihong Yang, Jing Ma, Themis Thoudam, Kristina Chandler, Maggie Hesler, Laura Heathers, Kiersten Gorse, Thanh Trung Van, David Wong, Aaron M. Gibson, Zeneng Wang, Christopher M. Taylor, Pearl Quijada, Catherine A. Makarewich, Stanley L. Hazen, Suthat Liangpunsakul, J Mark Brown, David J. Lefer, David A. Welsh, Thomas E. Sharp
School of Medicine Faculty Publications
The mechanism(s) underlying gut microbial metabolite (GMM) contribution towards alcohol-mediated cardiovascular disease (CVD) is unknown. Herein we observe elevation in circulating phenylacetylglutamine (PAGln), a known CVD-associated GMM, in individuals living with alcohol use disorder. In a male murine binge-on-chronic alcohol model, we confirm gut microbial reorganization, elevation in PAGln levels, and the presence of cardiovascular pathophysiology. Fecal microbiota transplantation from pair-/alcohol-fed mice into naïve male mice demonstrates the transmissibility of PAGln production and the CVD phenotype. Independent of alcohol exposure, pharmacological-mediated increases in PAGln elicits direct cardiac and vascular dysfunction. PAGln induced hypercontractility and altered calcium cycling in isolated cardiomyocytes …
Cultivating Compassion: A Cross-Sectional Evaluation Of Empathy Among Medical Undergraduate Students, Anchu R Nath, Ishika Jindal, Nayanabai Shabadi, Sunil Kumar D
Cultivating Compassion: A Cross-Sectional Evaluation Of Empathy Among Medical Undergraduate Students, Anchu R Nath, Ishika Jindal, Nayanabai Shabadi, Sunil Kumar D
Digital Journal of Clinical Medicine
ABSTRACT:
BACKGROUND: Empathy plays a crucial role in medical practice, profoundly affecting patient outcomes and treatment. Understanding the factors that influence empathy among medical students can help in developing strategies to enhance empathetic skills during medical training. This study aims to evaluate the correlates of empathy among medical undergraduate students using an epidemiological cross-sectional design.
MATERIALS AND METHODS:
A cross-sectional study was conducted among 270 medical undergraduate students from various academic years at JSS Medical College for four months (September 2023-December 2023). Convenient sampling was used to select study participants. Participants completed a standardized empathy questionnaire, the Jefferson Scale …
Prolonged Cardiopulmonary Bypass Time-Induced Endothelial Dysfunction Via Glypican-1 Shedding, Inflammation, And Matrix Metalloproteinase 9 In Patients Undergoing Cardiac Surgery, Shiyi Li, Katherine V Nordick, Iván Murrieta-Álvarez, Randall P Kirby, Rishav Bhattacharya, Ismael Garcia, Camila Hochman-Mendez, Todd K Rosengart, Kenneth K Liao, Nandan K Mondal
Prolonged Cardiopulmonary Bypass Time-Induced Endothelial Dysfunction Via Glypican-1 Shedding, Inflammation, And Matrix Metalloproteinase 9 In Patients Undergoing Cardiac Surgery, Shiyi Li, Katherine V Nordick, Iván Murrieta-Álvarez, Randall P Kirby, Rishav Bhattacharya, Ismael Garcia, Camila Hochman-Mendez, Todd K Rosengart, Kenneth K Liao, Nandan K Mondal
Faculty, Staff and Students Publications
OBJECTIVES: A prolonged cardiopulmonary bypass (CPB) time of over 180 min is linked to poorer outcomes and higher mortality in cardiac surgery. This study examines how glypican-1 shedding, matrix metallopeptidase 9 (MMP9), and the pro-inflammatory cytokine IL-1β may contribute to endothelial dysfunction in patients undergoing on-pump surgery with an extended CPB.
METHODS: Fifty-one patients undergoing cardiac surgical procedures were divided into two groups based on the intraoperative CPB duration: (i) normal CPB (<180 >min,
RESULTS: Before surgery, the plasma levels of glypican-1, MMP9, and IL-1β were comparable between the normal CPB and the prolonged CPB groups. However, after the end …
Artificial Intelligence In Fetal And Pediatric Echocardiography, Alan Wang, Tam T Doan, Charitha Reddy, Pei-Ni Jone
Artificial Intelligence In Fetal And Pediatric Echocardiography, Alan Wang, Tam T Doan, Charitha Reddy, Pei-Ni Jone
Faculty, Staff and Students Publications
Echocardiography is the main modality in diagnosing acquired and congenital heart disease (CHD) in fetal and pediatric patients. However, operator variability, complex image interpretation, and lack of experienced sonographers and cardiologists in certain regions are the main limitations existing in fetal and pediatric echocardiography. Advances in artificial intelligence (AI), including machine learning (ML) and deep learning (DL), offer significant potential to overcome these challenges by automating image acquisition, image segmentation, CHD detection, and measurements. Despite these promising advancements, challenges such as small number of datasets, algorithm transparency, physician comfort with AI, and accessibility must be addressed to fully integrate AI …
Multiparametric Cardiovascular Magnetic Resonance Is Associated With Outcomes In Pediatric Heart Transplant Recipients, Andrew A Lawson, Kae Watanabe, Lindsay Griffin, Christina Laternser, Michael Markl, Cynthia K Rigsby, Joshua D Robinson, Nazia Husain
Multiparametric Cardiovascular Magnetic Resonance Is Associated With Outcomes In Pediatric Heart Transplant Recipients, Andrew A Lawson, Kae Watanabe, Lindsay Griffin, Christina Laternser, Michael Markl, Cynthia K Rigsby, Joshua D Robinson, Nazia Husain
Faculty, Staff and Students Publications
BACKGROUND: Multiparametric cardiovascular magnetic resonance (CMR) has an emerging role in non-invasive surveillance of pediatric heart transplant recipients (PHTR). Higher myocardial T2, higher extracellular volume fraction (ECV), and late gadolinium enhancement (LGE) have been associated with adverse clinical outcomes in adult heart transplant recipients. The purpose of this study was to investigate the prognostic value of CMR-derived T1 and T2 mapping, ECV, and LGE for clinical outcomes in PHTR.
METHODS: We performed a single-center, retrospective chart review of consecutive, gadolinium-enhanced CMR studies in PHTR over a 7.5-year period, excluding follow-up studies. Standard CMR ventricular volume and function analysis, T1 mapping …
The Role Of The Triglyceride-Glucose Index As A Biomarker Of Cardio-Metabolic Syndromes, Verena Gounden, Sridevi Devaraj, Ishwarlal Jialal
The Role Of The Triglyceride-Glucose Index As A Biomarker Of Cardio-Metabolic Syndromes, Verena Gounden, Sridevi Devaraj, Ishwarlal Jialal
Faculty, Staff and Students Publications
BACKGROUND: The Triglyceride-glucose (TyG) index represents a simple, cost-effective, and valid proxy for insulin resistance. This surrogate marker has also been proposed as a predictor of metabolic and cardiovascular disease (CVD). In this descriptive review, we aimed to assess the utility of the TyG index as a predictive biomarker of cardiometabolic diseases.
METHODS: A search was conducted in PubMed, and Web of Science to identify cross-sectional and more importantly prospective studies examining the use of the TyG index as a predictive biomarker. The following terms were utilized in addition to the TyG index: "insulin resistance", "metabolic syndrome", "diabetes"; "cardiovascular diseases". …
International Workshop: What Is Needed To Ensure Outcome Measures For Rett Syndrome Are Fit-For-Purpose For Clinical Trials? June 7, 2023, Nashville, Usa, Jenny Downs, Dominique C Pichard, Walter E Kaufmann, Joseph P Horrigan, Melissa Raspa, Gillian Townend, Eric D Marsh, Helen Leonard, Kathleen Motil, Andrew C Dietz, Nupur Garg, Amitha Ananth, Breanne Byiers, Sarika Peters, Christopher Beatty, Frank Symons, Aleksandra Jacobs, James Youakim, Bernhard Suter, Paramola Santosh, Jeffrey L Neul, Tim A Benke
International Workshop: What Is Needed To Ensure Outcome Measures For Rett Syndrome Are Fit-For-Purpose For Clinical Trials? June 7, 2023, Nashville, Usa, Jenny Downs, Dominique C Pichard, Walter E Kaufmann, Joseph P Horrigan, Melissa Raspa, Gillian Townend, Eric D Marsh, Helen Leonard, Kathleen Motil, Andrew C Dietz, Nupur Garg, Amitha Ananth, Breanne Byiers, Sarika Peters, Christopher Beatty, Frank Symons, Aleksandra Jacobs, James Youakim, Bernhard Suter, Paramola Santosh, Jeffrey L Neul, Tim A Benke
Faculty, Staff and Students Publications
INTRODUCTION: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
METHODS: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted. The clinical outcome assessments measured clinical severity, functional abilities, comorbidities and quality of life, and …
Rna-Dependent Rna Polymerase Of Predominant Human Norovirus Forms Liquid-Liquid Phase Condensates As Viral Replication Factories, Soni Kaundal, Ramakrishnan Anish, B Vijayalakshmi Ayyar, Sreejesh Shanker, Gundeep Kaur, Sue E Crawford, Jeroen Pollet, Fabio Stossi, Mary K Estes, B V Venkataram Prasad
Rna-Dependent Rna Polymerase Of Predominant Human Norovirus Forms Liquid-Liquid Phase Condensates As Viral Replication Factories, Soni Kaundal, Ramakrishnan Anish, B Vijayalakshmi Ayyar, Sreejesh Shanker, Gundeep Kaur, Sue E Crawford, Jeroen Pollet, Fabio Stossi, Mary K Estes, B V Venkataram Prasad
Faculty, Staff and Students Publications
Many viral proteins form biomolecular condensates via liquid-liquid phase separation (LLPS) to support viral replication and evade host antiviral responses, and thus, they are potential targets for designing antivirals. In the case of nonenveloped positive-sense RNA viruses, forming such condensates for viral replication is unclear and less understood. Human noroviruses (HuNoVs) are positive-sense RNA viruses that cause epidemic and sporadic gastroenteritis worldwide. Here, we show that the RNA-dependent RNA polymerase (RdRp) of pandemic GII.4 HuNoV forms distinct condensates that exhibit all the signature properties of LLPS with sustained polymerase activity and the capability of recruiting components essential for viral replication. …
Ifrd1 Is Required For Maintenance Of Bladder Epithelial Homeostasis, Bisiayo E Fashemi, Amala K Rougeau, Arnold M Salazar, Steven J Bark, Rayvanth Chappidi, Jeffrey W Brown, Charles J Cho, Jason C Mills, Indira U Mysorekar
Ifrd1 Is Required For Maintenance Of Bladder Epithelial Homeostasis, Bisiayo E Fashemi, Amala K Rougeau, Arnold M Salazar, Steven J Bark, Rayvanth Chappidi, Jeffrey W Brown, Charles J Cho, Jason C Mills, Indira U Mysorekar
Faculty, Staff and Students Publications
The maintenance of homeostasis and rapid regeneration of the urothelium following stress are critical for bladder function. Here, we identify a key role for IFRD1 in maintaining urothelial homeostasis in a mouse model. We demonstrate that the murine bladder expresses IFRD1 at homeostasis, particularly in the urothelium, and its loss alters the global transcriptome with significant accumulation of endolysosomes and dysregulated uroplakin expression pattern. We show that IFRD1 interacts with mRNA-translation-regulating factors in human urothelial cells. Loss of Ifrd1 leads to disrupted proteostasis, enhanced endoplasmic reticulum (ER stress) with activation of the PERK arm of the unfolded protein response pathway, …
Uncontrolled Hypertension Or A Bad Medication Interaction? The Importance Of Reviewing Over-The-Counter Medications During Medication Reconciliation, Shefali Amin Do, Caitlyn R. Moss Md
Uncontrolled Hypertension Or A Bad Medication Interaction? The Importance Of Reviewing Over-The-Counter Medications During Medication Reconciliation, Shefali Amin Do, Caitlyn R. Moss Md
Transformative Medicine
Introduction: In the management of chronic conditions, review of the complete medication list for potential drug-drug interactions is crucial. This case involves a patient taking activated charcoal for unclear reasons, leading to misdiagnosed uncontrolled hypertension.
Case Description: We present the case of an elderly male with uncontrolled hypertension who had been placed on multiple chronic antihypertensives for years. On further review, he was found to be taking activated charcoal twice daily thereby inactivating his five oral antihypertensive medications and making his blood pressure difficult to control. Discontinuation of the activated charcoal led to significant improvement in his blood …
Comparison Of Vendor-Pretrained And Custom-Trained Deep Learning Segmentation Models For Head-And-Neck, Breast, And Prostate Cancers, Xinru Chen, Yao Zhao, Hana Baroudi, Mohammad D El Basha, Aji Daniel, Skylar S Gay, Cenji Yu, He Wang, Jack Phan, Seungtaek L Choi, Chelain R Goodman, Xiaodong Zhang, Joshua S Niedzielski, Sanjay S Shete, Laurence E Court, Zhongxing Liao, Fredrik Löfman, Peter A Balter, Jinzhong Yang
Comparison Of Vendor-Pretrained And Custom-Trained Deep Learning Segmentation Models For Head-And-Neck, Breast, And Prostate Cancers, Xinru Chen, Yao Zhao, Hana Baroudi, Mohammad D El Basha, Aji Daniel, Skylar S Gay, Cenji Yu, He Wang, Jack Phan, Seungtaek L Choi, Chelain R Goodman, Xiaodong Zhang, Joshua S Niedzielski, Sanjay S Shete, Laurence E Court, Zhongxing Liao, Fredrik Löfman, Peter A Balter, Jinzhong Yang
Faculty, Staff and Student Publications
Background/objectives: We assessed the influence of local patients and clinical characteristics on the performance of commercial deep learning (DL) segmentation models for head-and-neck (HN), breast, and prostate cancers.
Methods: Clinical computed tomography (CT) scans and clinically approved contours of 210 patients (53 HN, 49 left breast, 55 right breast, and 53 prostate cancer) were used to train and validate segmentation models integrated within a vendor-supplied DL training toolkit and to assess the performance of both vendor-pretrained and custom-trained models. Four custom models (HN, left breast, right breast, and prostate) were trained and validated with 30 (training)/5 (validation) HN, 34/5 left …
Structural Variant Allelic Heterogeneity In Mecp2 Duplication Syndrome Provides Insight Into Clinical Severity And Variability Of Disease Expression, Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, Kyunghee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S Shinawi, Virginia E Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M Vianna-Morgante, Alberto S Cornier, Ahmed Abdelmoity, James P Hwang, Shalini N Jhangiani, Donna M Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G Glaze, Jawid M Fatih, Richard A Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J Sedlazeck, James R Lupski, Huda Y Zoghbi, Claudia M B Carvalho
Structural Variant Allelic Heterogeneity In Mecp2 Duplication Syndrome Provides Insight Into Clinical Severity And Variability Of Disease Expression, Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, Kyunghee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S Shinawi, Virginia E Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M Vianna-Morgante, Alberto S Cornier, Ahmed Abdelmoity, James P Hwang, Shalini N Jhangiani, Donna M Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G Glaze, Jawid M Fatih, Richard A Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J Sedlazeck, James R Lupski, Huda Y Zoghbi, Claudia M B Carvalho
Faculty, Staff and Students Publications
BACKGROUND: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.
METHODS: To study the role of the genomic rearrangement structures on an individual's clinical phenotypic variability, we employed a comprehensive …
Evaluation Of An Artificial Intelligence-Based Intraocular Lens Calculator: Ai-Based Iol-Optimized Formula, Li Wang, Hendrik Burwinkel, Nicolas Bensaid, Douglas D Koch
Evaluation Of An Artificial Intelligence-Based Intraocular Lens Calculator: Ai-Based Iol-Optimized Formula, Li Wang, Hendrik Burwinkel, Nicolas Bensaid, Douglas D Koch
Faculty, Staff and Students Publications
Purpose: To evaluate the ZEISS AI IOL Calculator (ZEISS AI) and compare its accuracy in refractive prediction to the Barrett Universal II (BUII) and Kane formulas.
Setting: Cullen Eye Institute, Baylor College of Medicine, Houston, TX.
Design: Retrospective case series.
Methods: The ZEISS AI IOL Calculator (ZEISS AI) is an artificial intelligence (AI) based IOL-optimized formula. The refractive prediction errors (PEs) were calculated in the entire dataset and subgroups of short eyes (axial length (AL) ≤ 22.5 mm) and long eyes (AL ≥ 25.0 mm). The standard deviation (SD), root-mean-square absolute error (RMSAE), mean absolute error (MAE), median absolute error …
Early Host Defense Against Virus Infections, Søren R. Paludan, Thomas Pradeu, Andreas Pichlmair, K. Brad Wray, Jacob Giehm Mikkelsen, David Olagnier, Trine H. Mogensen
Early Host Defense Against Virus Infections, Søren R. Paludan, Thomas Pradeu, Andreas Pichlmair, K. Brad Wray, Jacob Giehm Mikkelsen, David Olagnier, Trine H. Mogensen
Presidential Fellows Articles and Research
Early host defense eliminates many viruses before infections are established while clearing others so they remain subclinical or cause only mild disease. The field of immunology has been shaped by broad concepts, including the pattern recognition theory that currently dominates innate immunology. Focusing on early host responses to virus infections, we analyze the literature to build a working hypothesis for the principles that govern the early line of cellular antiviral defense. Aiming to ultimately arrive at a criteria-based theory with strong explanatory power, we propose that both controlling infection and limiting inflammation are key drivers for the early cellular antiviral …
Venous Thromboembolism Prophylaxis In Orthopedic Surgery: A Narrative Review, Jacob Lahti, Sarah Gallitto, Thomas C. Varkey
Venous Thromboembolism Prophylaxis In Orthopedic Surgery: A Narrative Review, Jacob Lahti, Sarah Gallitto, Thomas C. Varkey
Annual Research Symposium
This poster highlights current and updated guidelines for chemical and mechanical prophylaxis for venous thromboembolism in patients undergoing major and minor orthopedic surgery. Existing and new potential therapies were reviewed, as well as an analysis into the lack of high-quality risk-prediction score calculators to improve personalization of prophylaxis regimens. Alongside a summary of existing and potential new prophylaxis protocols, a call to action to improve validity of said risk score calculators so as to improve patient outcomes and personalized medicine is made.
Food Security And Its Impact On Hypertension In Urban Communities, Lauren M. Nobriga
Food Security And Its Impact On Hypertension In Urban Communities, Lauren M. Nobriga
Master's Projects and Capstones
The Quality Improvement Team proposed an intervention to increase enrollment in the Food Security Program, a six-month initiative that provides vouchers redeemable for fruits and vegetables. Long-term impacts of this Program include an improved food economy and enhanced patient disease management autonomy. This project aimed to increase the percentage of eligible adult medicine clinic patients enrolled in the Food Security Program by 25%, or 11 patients per month, based on the mean enrollment for the first four months of the Program (May to August) of nine patients. The intervention was based on bi-monthly performance reports, making the goal include enrolling …
Onycholysis In An Elderly Woman: Proposal For Treatment With Coix Seed Extract Administration, Yasuhiro Horiuchi
Onycholysis In An Elderly Woman: Proposal For Treatment With Coix Seed Extract Administration, Yasuhiro Horiuchi
Journal of General - Procedural Dermatology and Venereology Indonesia
Background: The exact etiology of onycholysis, which is characterized by the painless separation of the nail from the nail bed, remains unclear. Currently, there are no established effective treatments for this condition. Coix seed extract (C-S extract), a traditional Chinese medicine, is recognized for its various biological properties.
Case Illustration: This report describes a case of onycholysis affecting the left index finger of a 62-year-old female patient, with initial symptoms appearing three months prior. Despite ongoing internal administration of C-S extract, the patient experienced a recurrence of onycholysis on both the index finger and pinky finger of the left hand …
A Rare Case Of A Malignant Proliferating Trichilemmal Tumor: A Molecular Study Harboring Potential Therapeutic Significance And A Review Of Literature, Mokhtar H Abdelhammed, Hanna Siatecka, A Hafeez Diwan, Christie J Finch, Angela D Haskins, David J Hernandez, Ya Xu
A Rare Case Of A Malignant Proliferating Trichilemmal Tumor: A Molecular Study Harboring Potential Therapeutic Significance And A Review Of Literature, Mokhtar H Abdelhammed, Hanna Siatecka, A Hafeez Diwan, Christie J Finch, Angela D Haskins, David J Hernandez, Ya Xu
Faculty, Staff and Students Publications
Malignant proliferating trichilemmal tumors (MPTTs), arising from the external root sheath of hair follicles, are exceptionally rare, with limited documentation of their genetic alterations. We present a case of a 64-year-old African American woman who initially presented with a gradually enlarging nodule on her posterior scalp. An initial biopsy at an outside hospital suggested metastatic adenocarcinoma or squamous cell carcinoma (SCC) of an uncertain origin. A subsequent wide local excision revealed a 2.0 cm tumor demonstrating characteristic trichilemmal keratinization, characterized by an abrupt transition from the nucleated epithelium to a laminated keratinized layer, confirming MPTT. Immunohistochemistry demonstrated diffuse p53 expression, …
Mutation- And Mrd-Informed Treatments For Transplant-Ineligible Patients, Curtis A Lachowiez, Courtney D Dinardo
Mutation- And Mrd-Informed Treatments For Transplant-Ineligible Patients, Curtis A Lachowiez, Courtney D Dinardo
Faculty, Staff and Student Publications
The ongoing development of molecularly targeted therapies in addition to the new standard of care combination of azacitidine and venetoclax (AZA-VEN) has transformed the prognostic outlook for older, transplant-ineligible patients with acute myeloid leukemia (AML). While conventional treatments, such as standard anthracycline and cytarabine- based chemotherapy or hypomethylating agent (HMA) monotherapy, are associated with a generally poor prognosis in this patient population, the use of these novel regimens can result in long-lasting, durable remissions in select patient subgroups. Furthermore, the simultaneous discovery of resistance mechanisms to targeted therapies and AZA-VEN has enabled the identification of patient subgroups with inferior outcomes, …
Transplant-Associated Tma: The Conundrum Of Diagnosis And Treatment, Ang Li, Sarah E Sartain
Transplant-Associated Tma: The Conundrum Of Diagnosis And Treatment, Ang Li, Sarah E Sartain
Faculty, Staff and Students Publications
Transplant-associated thrombotic microangiopathy (TA-TMA) after hematopoietic cell transplantation is characterized by microangiopathic hemolytic anemia (MAHA) with persistent schistocytosis, elevated markers of hemolysis, thrombocytopenia, and microvascular thrombosis leading to ischemic injuries in the kidneys and other organs. The initial evaluation of the disease requires confirmation of non-immune MAHA and careful examination of known secondary causes of TMA. Due to increased likelihood of long-term renal failure and overall mortality, a rapid diagnosis and treatment of the underlying trigger is needed. However, the diagnostic criteria proposed to define TA-TMA remain insufficient. sC5b9, the soluble form of the membrane attack complex of the terminal …
Spatial Dynamics Of Culex Quinquefasciatus Abundance: Geostatistical Insights From Harris County, Texas, Morgan Jibowu, Melissa S Nolan, Ryan Ramphul, Heather T Essigmann, Abiodun O Oluyomi, Eric L Brown, Maximea Vigilant, Sarah M Gunter
Spatial Dynamics Of Culex Quinquefasciatus Abundance: Geostatistical Insights From Harris County, Texas, Morgan Jibowu, Melissa S Nolan, Ryan Ramphul, Heather T Essigmann, Abiodun O Oluyomi, Eric L Brown, Maximea Vigilant, Sarah M Gunter
Faculty, Staff and Students Publications
Mosquito-borne diseases pose a significant public health threat, prompting the need to pinpoint high-risk areas for targeted interventions and environmental control measures. Culex quinquefasciatus is the primary vector for several mosquito-borne pathogens, including West Nile virus. Using spatial analysis and modeling techniques, we investigated the geospatial distribution of Culex quinquefasciatus abundance in the large metropolis of Harris County, Texas, from 2020 to 2022. Our geospatial analysis revealed clusters of high mosquito abundance, predominantly located in central Houston and the north-northwestern regions of Harris County, with lower mosquito abundance observed in the western and southeastern areas. We identified persistent high mosquito …
Review Of The Diagnosis, Pathophysiology, And Treatment Of Naegleria Fowleri-Induced Primary Amoebic Meningoencephalitis, Terrance Zhang
Review Of The Diagnosis, Pathophysiology, And Treatment Of Naegleria Fowleri-Induced Primary Amoebic Meningoencephalitis, Terrance Zhang
MCB Articles
Naegleria fowleri is a thermophilic, ubiquitous, free-living amoeba, but is also known as the “brain-eating” amoeba. This is the etiological agent of a rare and fulminant waterborne disease known as Primary Amoebic Meningoencephalitis (PAM) that is acutely fatal in 90-99% of reported cases. Those who come into contact with infested waters are at risk of introducing the amoeba into their upper nasal canal, whence the trophozoite form is known to migrate along the olfactory nerve, through the cribriform plate, and enter the central nervous system. Although the exact pathogenesis of N. fowleri is not known, studies have demonstrated contact-dependent and …
Adiposity Throughout Adulthood And Risk Of Young-Onset Breast Cancer Tumor Subtypes In The Young Women's Health History Study, Lydia Marcus Post, Dorothy R. Pathak, Ann S. Hamilton, Kelly A. Hirko, Richard T. Houang, Emily H. Guseman, Dan Sanfelippo, Nicole Bohme Carnegie, L. Karl Olson, Hallgeir Rui, Ann G. Schwartz, Ellen M. Velie
Adiposity Throughout Adulthood And Risk Of Young-Onset Breast Cancer Tumor Subtypes In The Young Women's Health History Study, Lydia Marcus Post, Dorothy R. Pathak, Ann S. Hamilton, Kelly A. Hirko, Richard T. Houang, Emily H. Guseman, Dan Sanfelippo, Nicole Bohme Carnegie, L. Karl Olson, Hallgeir Rui, Ann G. Schwartz, Ellen M. Velie
Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers
BACKGROUND: The role of adult adiposity in young-onset breast cancer (YOBC) subtype risk is not well understood.
METHODS: In this population-based case (n = 1812)-control (n = 1,381) study of invasive YOBC (ages <50 >years), cases were identified from the Los Angeles County and Metropolitan Detroit Surveillance, Epidemiology, and End Results registries, 2010 to 2015. Area-based, frequency-matched controls were sampled from the 2010 Census. General adiposity [body mass index (BMI)] and central adiposity (waist circumference and waist-to-height ratio) across adulthood and covariates were collected from in-person interviews and measurements. ORs and 95% confidence intervals (CI) for adiposity and YOBC tumor subtypes …50>