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A Lexicon For First-Trimester Us: Society Of Radiologists In Ultrasound Consensus Conference Recommendations, Shuchi K Rodgers, Mindy M Horrow, Peter M Doubilet, Mary C Frates, Anne Kennedy, Rochelle Andreotti, Kristyn Brandi, Laura Detti, Sarah K Horvath, Aya Kamaya, Atsuko Koyama, Penelope Chun Lema, Katherine E Maturen, Tara Morgan, Sarah G Običan, Kristen Olinger, Roya Sohaey, Suneeta Senapati, Lori M Strachowski Aug 2024

A Lexicon For First-Trimester Us: Society Of Radiologists In Ultrasound Consensus Conference Recommendations, Shuchi K Rodgers, Mindy M Horrow, Peter M Doubilet, Mary C Frates, Anne Kennedy, Rochelle Andreotti, Kristyn Brandi, Laura Detti, Sarah K Horvath, Aya Kamaya, Atsuko Koyama, Penelope Chun Lema, Katherine E Maturen, Tara Morgan, Sarah G Običan, Kristen Olinger, Roya Sohaey, Suneeta Senapati, Lori M Strachowski

Faculty, Staff and Students Publications

The Society of Radiologists in Ultrasound convened a multisociety panel to develop a first-trimester US lexicon based on scientific evidence, societal guidelines, and expert consensus that would be appropriate for imagers, clinicians, and patients. Through a modified Delphi process with consensus of at least 80%, agreement was reached for preferred terms, synonyms, and terms to avoid. An intrauterine pregnancy (IUP) is defined as a pregnancy implanted in a normal location within the uterus. In contrast, an ectopic pregnancy (EP) is any pregnancy implanted in an abnormal location, whether extrauterine or intrauterine, thus categorizing cesarean scar implantations as EPs. The term …


Mechanisms Of Neurodevelopmental Toxicity Of Topiramate, John W Steele, Vaishnav Krishnan, Richard H Finnell Aug 2024

Mechanisms Of Neurodevelopmental Toxicity Of Topiramate, John W Steele, Vaishnav Krishnan, Richard H Finnell

Faculty, Staff and Students Publications

Prescriptions for antiseizure medications (ASMs) have been rapidly growing over the last several decades due, in part, to an expanding list of clinical indications for which they are now prescribed. This trend has raised concern for potential adverse neurodevelopmental outcomes in ASM-exposed pregnancies. Recent large scale population studies have suggested that the use of topiramate (TOPAMAX, Janssen-Cilag), when prescribed for seizure control, migraines, and/or weight management, is associated with an increased risk for autism spectrum disorder (ASD), intellectual disability, and attention-deficit/hyperactivity disorder (ADHD) in exposed offspring. Here, we critically review epidemiologic evidence demonstrating the neurobehavioral teratogenicity of topiramate and speculate …


Validation Of Electronic Diagnostic Codes For Rapid Eye Movement Sleep Behavior Disorder, Melissa B Jones, Carlos H Schenck, Mehrnaz Azarian, Ricardo E Jorge, Amir Sharafkhaneh, Javad Razjouyan Aug 2024

Validation Of Electronic Diagnostic Codes For Rapid Eye Movement Sleep Behavior Disorder, Melissa B Jones, Carlos H Schenck, Mehrnaz Azarian, Ricardo E Jorge, Amir Sharafkhaneh, Javad Razjouyan

Faculty, Staff and Students Publications

We investigated the accuracy of International Classification of Diseases (ICD) codes for the identification of veterans with rapid eye movement sleep behavior disorder. The charts of 139 randomly sampled veterans with ≥ 1 ICD-9 and ICD-10 code(s) for rapid eye movement sleep behavior disorder were reviewed for documentation of a suspected, previous, or current diagnosis; clinical symptoms; and/or empiric treatments for this disorder. Notably, 71 (51.1%) patients with rapid eye movement sleep behavior disorder electronic diagnoses had not undergone polysomnography, and 29 (20.9%) had polysomnography reports without commentary on rapid eye movement sleep without atonia. Sleep centers are therefore encouraged …


Safety And Efficacy Outcomes Of Early Cessation Of Anti-Pd1 Therapy In Patients 80 Years Or Older: A Retrospective Cohort Study, Kylie Fletcher, Alessio Cortellini, Teja Ganta, Roma Kankaria, Haocan Song, Fei Ye, Rebecca Irlmeier, Neha Debnath, Anwaar Saeed, Maluki Radford, Asrar Alahmadi, Akiva Diamond, Christopher Hoimes, Carolyn J Presley, Dwight H Owen, Sarah Abou Alaiwi, Amin H Nassar, Giuseppe Lamberti, Fabiana Perrone, Sebastiano Buti, Raffaele Giusti, Marco Filetti, Vito Vanella, Domenico Mallardo, Tamara A Sussman, Domenico Galetta, Foteini Kalofonou, Ella Daniels, Paolo A Ascierto, David J Pinato, Caroline Nebhan, Stephanie Berg, Toni K Choueiri, Thomas U Marron, Yinghong Wang, Abdul Rafeh Naqash, Douglas B Johnson Aug 2024

Safety And Efficacy Outcomes Of Early Cessation Of Anti-Pd1 Therapy In Patients 80 Years Or Older: A Retrospective Cohort Study, Kylie Fletcher, Alessio Cortellini, Teja Ganta, Roma Kankaria, Haocan Song, Fei Ye, Rebecca Irlmeier, Neha Debnath, Anwaar Saeed, Maluki Radford, Asrar Alahmadi, Akiva Diamond, Christopher Hoimes, Carolyn J Presley, Dwight H Owen, Sarah Abou Alaiwi, Amin H Nassar, Giuseppe Lamberti, Fabiana Perrone, Sebastiano Buti, Raffaele Giusti, Marco Filetti, Vito Vanella, Domenico Mallardo, Tamara A Sussman, Domenico Galetta, Foteini Kalofonou, Ella Daniels, Paolo A Ascierto, David J Pinato, Caroline Nebhan, Stephanie Berg, Toni K Choueiri, Thomas U Marron, Yinghong Wang, Abdul Rafeh Naqash, Douglas B Johnson

Faculty, Staff and Students Publications

Older patients have similar immune checkpoint inhibitor efficacy and rates of adverse events as younger patients, but appear to have decreased tolerability, particularly in the oldest patient cohort (>80 years), often leading to early cessation of therapy. We aimed to determine whether early discontinuation impacts efficacy of anti-PD-1 therapy in patients ≥80 years old. In this retrospective, multicenter, international cohort study, we examined 773 patients with 4 tumor types who were at least 80 years old and treated with anti-PD-1 therapy. We determined response rate, overall survival (OS), and progression-free survival (PFS) in patients who discontinued therapy early (< 12 months) for reasons other than progression or death. We used descriptive statistics for demographics, response, and toxicity rates. Survival statistics were described using Kaplan Meier curves. Median (range) age at anti-PD-1 initiation was 83.0 (75.8-97.0) years. The cancer types included were melanoma (n = 286), non-small cell lung cancer (NSCLC) (n = 345), urothelial cell carcinoma (UCC) (n = 108), and renal cell carcinoma (RCC) (n = 34). Of these, 102 met the primary endpoint of < 12 months to discontinuation for reasons other than death or progression. Median PFS and OS, respectively, for these patients were 34.4 months and 46.6 months for melanoma, 15.8 months and 23.4 months for NSCLC, and 10.4 months and 15.8 months for UCC. This study suggests geriatric patients who have demonstrated therapeutic benefit and discontinued anti-PD-1 therapy at less than 12 months of duration for reasons other than progression may have durable clinical benefit without additional therapy.


Clinical Features And Outcomes Of Pediatric And Adult Patients Hospitalized For Coronavirus Disease 2019: A Comparison Across Age Strata, Grace X Li, Komal Gopchandani, Noah Brazer, Ashley Tippett, Chris Choi, Hui-Mien Hsiao, Miriam Oseguera, Abiodun Foresythe, Sanchita Bhattacharya, Venice Servellita, Alicia Sotomayor Gonzalez, Jennifer K Spinler, Mark D Gonzalez, Dalia Gulick, Colleen Kraft, Vyjayanti Kasinathan, Yun F Wayne Wang, Jennifer Dien Bard, Pei Ying Chen, Jessica Flores-Vazquez, Audrey R Odom John, Paul J Planet, Sridevi Devaraj, Ananth V Annapragada, Ruth Ann Luna, Charles Y Chiu, Christina A Rostad Aug 2024

Clinical Features And Outcomes Of Pediatric And Adult Patients Hospitalized For Coronavirus Disease 2019: A Comparison Across Age Strata, Grace X Li, Komal Gopchandani, Noah Brazer, Ashley Tippett, Chris Choi, Hui-Mien Hsiao, Miriam Oseguera, Abiodun Foresythe, Sanchita Bhattacharya, Venice Servellita, Alicia Sotomayor Gonzalez, Jennifer K Spinler, Mark D Gonzalez, Dalia Gulick, Colleen Kraft, Vyjayanti Kasinathan, Yun F Wayne Wang, Jennifer Dien Bard, Pei Ying Chen, Jessica Flores-Vazquez, Audrey R Odom John, Paul J Planet, Sridevi Devaraj, Ananth V Annapragada, Ruth Ann Luna, Charles Y Chiu, Christina A Rostad

Faculty, Staff and Students Publications

BACKGROUND: Coronavirus disease 2019 (COVID-19) continues to cause hospitalizations and severe disease in children and adults.

METHODS: This study compared the risk factors, symptoms, and outcomes of children and adults hospitalized for COVID-19 from March 2020 to May 2023 across age strata at 5 US sites participating in the Predicting Viral-Associated Inflammatory Disease Severity in Children with Laboratory Diagnostics and Artificial Intelligence consortium. Eligible patients had an upper respiratory swab that tested positive for severe acute respiratory syndrome coronavirus 2 by nucleic acid amplification. Adjusted odds ratios (aOR) of clinical outcomes were determined for children versus adults, for pediatric age …


Using Geospatial Analysis To Identify Priority Communities For Cervical Cancer Prevention In Texas, Itunu O Sokale, Aaron P Thrift, Jane R Montealegre, Onyema G Chido-Amajuoyi, Victor T Adekanmbi, Abiodun O Oluyomi Aug 2024

Using Geospatial Analysis To Identify Priority Communities For Cervical Cancer Prevention In Texas, Itunu O Sokale, Aaron P Thrift, Jane R Montealegre, Onyema G Chido-Amajuoyi, Victor T Adekanmbi, Abiodun O Oluyomi

Faculty, Staff and Students Publications

INTRODUCTION: Despite being almost entirely preventable, cervical cancer is the fourth most frequently diagnosed cancer among women worldwide. Cervical cancer incidence suggests missed opportunities for prevention. Geospatial analysis could strategically guide public health interventions. This study aimed to identify geographic clusters of cervical cancer incidence in Texas, a state with higher than national rates of cervical cancer incidence and mortality.

METHODS: In this population-based cross-sectional study, the authors analyzed incident cervical cancer data among Texas women aged 30-64 years, from 2014 to 2018. The authors conducted a purely spatial Poisson-based analysis function in SaTScan to examine geographic clusters of higher-than-expected …


Treatments And The Perspectives Of Developing A Vaccine For Chagas Disease, Priscila Silva Grijó Farani, Kathryn Marie Jones, Cristina Poveda Aug 2024

Treatments And The Perspectives Of Developing A Vaccine For Chagas Disease, Priscila Silva Grijó Farani, Kathryn Marie Jones, Cristina Poveda

Faculty, Staff and Students Publications

Chagas disease (CD) treatment and vaccine development are critical due to the significant health burden caused by the disease, especially in Latin America. Current treatments include benznidazole and nifurtimox, which are most effective in the acute phase of the disease but less so in the chronic phase, often with significant side effects. Here, using the available literature, we summarize the progress in vaccine development and new treatments that promise to reduce CD incidence and improve the quality of life for those at risk, particularly in endemic regions. New treatment options, such as posaconazole and fexinidazole, are being explored to improve …


The Interaction Of Endorepellin And Neurexin Triggers Neuroepithelial Autophagy And Maintains Neural Tube Development, Lei Lu, Meizhu Bai, Yufang Zheng, Xiukun Wang, Zhongzhong Chen, Rui Peng, Richard H Finnell, Tongjin Zhao, Chengtao Li, Bo Wu, Yunping Lei, Jinsong Li, Hongyan Wang Jul 2024

The Interaction Of Endorepellin And Neurexin Triggers Neuroepithelial Autophagy And Maintains Neural Tube Development, Lei Lu, Meizhu Bai, Yufang Zheng, Xiukun Wang, Zhongzhong Chen, Rui Peng, Richard H Finnell, Tongjin Zhao, Chengtao Li, Bo Wu, Yunping Lei, Jinsong Li, Hongyan Wang

Faculty, Staff and Students Publications

Heparan sulfate proteoglycan 2 (HSPG2) gene encodes the matrix protein Perlecan, and genetic inactivation of this gene creates mice that are embryonic lethal with severe neural tube defects (NTDs). We discovered rare genetic variants of HSPG2 in 10% cases compared to only 4% in controls among a cohort of 369 NTDs. Endorepellin, a peptide cleaved from the domain V of Perlecan, is known to promote angiogenesis and autophagy in endothelial cells. The roles of enderepellin in neurodevelopment remain unclear so far. Our study revealed that endorepellin can migrate to the neuroepithelial cells and then be recognized and bind with the …


Demystifying The Virtualization Process: A Call For Standard Reporting Of Virtual Modifications To Evidence-Based Psychotherapies, Using The Frame Model, Derrecka M Boykin, Tracey L Smith, Barbara Rakel, Merlyn Rodrigues, Jennie Embree, Ken Woods, Angelic D Chaison, Lilian Dindo Jul 2024

Demystifying The Virtualization Process: A Call For Standard Reporting Of Virtual Modifications To Evidence-Based Psychotherapies, Using The Frame Model, Derrecka M Boykin, Tracey L Smith, Barbara Rakel, Merlyn Rodrigues, Jennie Embree, Ken Woods, Angelic D Chaison, Lilian Dindo

Faculty, Staff and Students Publications

The sudden onset of the coronavirus disease led to a rapid expansion of video telehealth to deliver mental healthcare. Although video telehealth was not a new clinical practice, there was limited guidance on how best to modify evidence-based psychotherapies (EBPs) for virtual delivery (a process also referred to as virtualization). The virtualization process for EBPs remains unclear as newly emerging reports on this topic do not consistently report modification decisions. This commentary calls attention to the need to improve documentation practices to allow a greater understanding of modifications needed to maximize the positive effects of EBPs transported to a virtual …


The Interplay Between Gender And Duration Of Hospitalization Modulates Psychiatric Symptom Severity In Subjects With Long Covid-19, Alessio Simonetti, Antonio Restaino, Claudia Calderoni, Emanuela De Chiara, Antonio Maria D'Onofrio, Salvatore Lioniello, Giovanni Camardese, Delfina Janiri, Matteo Tosato, Francesco Landi, Gabriele Sani Jul 2024

The Interplay Between Gender And Duration Of Hospitalization Modulates Psychiatric Symptom Severity In Subjects With Long Covid-19, Alessio Simonetti, Antonio Restaino, Claudia Calderoni, Emanuela De Chiara, Antonio Maria D'Onofrio, Salvatore Lioniello, Giovanni Camardese, Delfina Janiri, Matteo Tosato, Francesco Landi, Gabriele Sani

Faculty, Staff and Students Publications

Long COVID-19 is characterized by ongoing symptoms or prolonged or long-term complications of SARS-CoV-2 contraction which persist beyond 4 weeks from the initial onset of symptoms. Gender and duration of hospitalization (DH) are key risk factors for developing long COVID-19 syndrome, but their impact and interplay need further study. This research involved 996 long COVID-19 patients, and we compared the levels of general psychopathology, depression, agitated depression, anxiety, and medication use between hospitalized and non-hospitalized males and females. In the hospitalized patients, multivariate regressions assessed the impact of gender, DH, and the interaction of these variables. The females had higher …


A Light-Responsive Neural Circuit Suppresses Feeding, Hailan Liu, Na Qu, Natalia Valdez Gonzalez, Marco A Palma, Huamin Chen, Jiani Xiong, Abhinav Choubey, Yongxiang Li, Xin Li, Meng Yu, Hesong Liu, Longlong Tu, Nan Zhang, Na Yin, Kristine Marie Conde, Mengjie Wang, Jonathan Carter Bean, Junying Han, Nikolas Anthony Scarcelli, Yongjie Yang, Kenji Saito, Huxing Cui, Qingchun Tong, Zheng Sun, Chunmei Wang, Xing Cai, Li Lu, Yang He, Yong Xu Jul 2024

A Light-Responsive Neural Circuit Suppresses Feeding, Hailan Liu, Na Qu, Natalia Valdez Gonzalez, Marco A Palma, Huamin Chen, Jiani Xiong, Abhinav Choubey, Yongxiang Li, Xin Li, Meng Yu, Hesong Liu, Longlong Tu, Nan Zhang, Na Yin, Kristine Marie Conde, Mengjie Wang, Jonathan Carter Bean, Junying Han, Nikolas Anthony Scarcelli, Yongjie Yang, Kenji Saito, Huxing Cui, Qingchun Tong, Zheng Sun, Chunmei Wang, Xing Cai, Li Lu, Yang He, Yong Xu

Faculty, Staff and Students Publications

Light plays an essential role in a variety of physiological processes, including vision, mood, and glucose homeostasis. However, the intricate relationship between light and an animal's feeding behavior has remained elusive. Here, we found that light exposure suppresses food intake, whereas darkness amplifies it in male mice. Interestingly, this phenomenon extends its reach to diurnal male Nile grass rats and healthy humans. We further show that lateral habenula (LHb) neurons in mice respond to light exposure, which in turn activates 5-HT neurons in the dorsal Raphe nucleus (DRN). Activation of the LHb→5-HTDRN circuit in mice blunts darkness-induced hyperphagia, while inhibition …


Gestational Diabetes As A Risk Factor For Gbs Maternal Rectovaginal Colonization: A Systematic Review And Meta-Analysis, Vicki Mercado-Evans, Jacob J Zulk, Zainab A Hameed, Kathryn A Patras Jul 2024

Gestational Diabetes As A Risk Factor For Gbs Maternal Rectovaginal Colonization: A Systematic Review And Meta-Analysis, Vicki Mercado-Evans, Jacob J Zulk, Zainab A Hameed, Kathryn A Patras

Faculty, Staff and Students Publications

BACKGROUND: Maternal rectovaginal colonization by group B Streptococcus (GBS) increases the risk of perinatal GBS disease that can lead to death or long-term neurological impairment. Factors that increase the risk of rectovaginal GBS carriage are incompletely understood resulting in missed opportunities for detecting GBS in risk-based clinical approaches. There is a lacking consensus on whether gestational diabetes mellitus (GDM) is a risk factor for rectovaginal GBS. This systematic review and meta-analysis aims to address current conflicting findings and determine whether GDM should be clinically considered as a risk factor for maternal GBS colonization.

METHODS: Peer-reviewed studies that provided GDM prevalence …


Transcriptomic Analysis Reveals The Anti-Cancer Effect Of Gestational Mesenchymal Stem Cell Secretome, Salvatore Vaiasicca, Gianmarco Melone, David W James, Marcos Quintela, Jing Xiao, Seydou Yao, Richard H Finnell, Robert S Conlan, Lewis W Francis, Bruna Corradetti Jul 2024

Transcriptomic Analysis Reveals The Anti-Cancer Effect Of Gestational Mesenchymal Stem Cell Secretome, Salvatore Vaiasicca, Gianmarco Melone, David W James, Marcos Quintela, Jing Xiao, Seydou Yao, Richard H Finnell, Robert S Conlan, Lewis W Francis, Bruna Corradetti

Faculty, Staff and Students Publications

The environment created during embryogenesis contributes to reducing aberrations that drive structural malformations and tumorigenesis. In this study, we investigate the anti-cancer effect of mesenchymal stem cells (MSCs) derived from 2 different gestational tissues, the amniotic fluid (AF) and the chorionic villi (CV), with emphasis on their secretome. Transcriptomic analysis was performed on patient-derived AF- and CV-MSCs collected during prenatal diagnosis and identified both mRNAs and lncRNAs, involved in tissue homeostasis and inhibiting biological processes associated with the etiology of aggressive cancers while regulating immune pathways shown to be important in chronic disorders. Secretome enrichment analysis also identified soluble moieties …


27-Hydroxycholesterol Acts On Estrogen Receptor Α Expressed By Pomc Neurons In The Arcuate Nucleus To Modulate Feeding Behavior, Hui Ye, Xiaohua Yang, Bing Feng, Pei Luo, Valeria C Torres Irizarry, Leslie Carrillo-Sáenz, Meng Yu, Yongjie Yang, Benjamin P Eappen, Marcos David Munoz, Nirali Patel, Sarah Schaul, Lucas Ibrahimi, Penghua Lai, Xinyue Qi, Yuliang Zhou, Maya Kota, Devin Dixit, Madeline Mun, Chong Wee Liew, Yuwei Jiang, Chunmei Wang, Yanlin He, Pingwen Xu Jul 2024

27-Hydroxycholesterol Acts On Estrogen Receptor Α Expressed By Pomc Neurons In The Arcuate Nucleus To Modulate Feeding Behavior, Hui Ye, Xiaohua Yang, Bing Feng, Pei Luo, Valeria C Torres Irizarry, Leslie Carrillo-Sáenz, Meng Yu, Yongjie Yang, Benjamin P Eappen, Marcos David Munoz, Nirali Patel, Sarah Schaul, Lucas Ibrahimi, Penghua Lai, Xinyue Qi, Yuliang Zhou, Maya Kota, Devin Dixit, Madeline Mun, Chong Wee Liew, Yuwei Jiang, Chunmei Wang, Yanlin He, Pingwen Xu

Faculty, Staff and Students Publications

Oxysterols are metabolites of cholesterol that regulate cholesterol homeostasis. Among these, the most abundant oxysterol is 27-hydroxycholesterol (27HC), which can cross the blood-brain barrier. Because 27HC functions as an endogenous selective estrogen receptor modulator, we hypothesize that 27HC binds to the estrogen receptor α (ERα) in the brain to regulate energy balance. Supporting this view, we found that delivering 27HC to the brain reduced food intake and activated proopiomelanocortin (POMC) neurons in the arcuate nucleus of the hypothalamus (POMCARH) in an ERα-dependent manner. In addition, we observed that inhibiting brain ERα, deleting ERα in POMC neurons, or chemogenetic inhibition of …


Full-Length Αiibβ3 Cryo-Em Structure Reveals Intact Integrin Initiate-Activation Intrinsic Architecture, Tong Huo, Hongjiang Wu, Zeinab Moussa, Mehmet Sen, Valerie Dalton, Zhao Wang Jul 2024

Full-Length Αiibβ3 Cryo-Em Structure Reveals Intact Integrin Initiate-Activation Intrinsic Architecture, Tong Huo, Hongjiang Wu, Zeinab Moussa, Mehmet Sen, Valerie Dalton, Zhao Wang

Faculty, Staff and Students Publications

Integrin αIIbβ3 is the key receptor regulating platelet retraction and accumulation and a proven drug-target for antithrombotic therapies. Here we resolve the cryoEM structures of the full-length αIIbβ3, which covers three distinct states along the activation pathway. Firstly, we obtain the αIIbβ3 structure at 3Å resolution in the inactive state, revealing the overall topology of the heterodimer with the transmembrane (TM) helices and the ligand-binding domain tucked in a specific angle proximity to the TM region. After the addition of a Mn2+ agonist, we resolve two coexisting structures representing two new states between inactive and active state. Our structures show …


Msl2 Variants Lead To A Neurodevelopmental Syndrome With Lack Of Coordination, Epilepsy, Specific Dysmorphisms, And A Distinct Episignature, Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley Mcconkey, Maria Shvedunova, Andrea K Petersen, Kari Magnussen, Christiane Zweier, Georgia Vasileiou, André Reis, Juliann M Savatt, Meghan R Mulligan, Louise S Bicknell, Gemma Poke, Aya Abu-El-Haija, Jessica Duis, Vickie Hannig, Siddharth Srivastava, Elizabeth Barkoudah, Natalie S Hauser, Myrthe Van Den Born, Uri Hamiel, Noa Henig, Hagit Baris Feldman, Shane Mckee, Ingrid P C Krapels, Yunping Lei, Albena Todorova, Ralitsa Yordanova, Slavena Atemin, Mihael Rogac, Vivienne Mcconnell, Anna Chassevent, Kristin W Barañano, Vandana Shashi, Jennifer A Sullivan, Angela Peron, Maria Iascone, Maria P Canevini, Jennifer Friedman, Iris A Reyes, Janell Kierstein, Joseph J Shen, Faria N Ahmed, Xiao Mao, Berta Almoguera, Fiona Blanco-Kelly, Konrad Platzer, Ariana-Berenike Treu, Juliette Quilichini, Alexia Bourgois, Nicolas Chatron, Louis Januel, Christelle Rougeot, Deanna Alexis Carere, Kristin G Monaghan, Justine Rousseau, Kenneth A Myers, Bekim Sadikovic, Asifa Akhtar, Philippe M Campeau Jul 2024

Msl2 Variants Lead To A Neurodevelopmental Syndrome With Lack Of Coordination, Epilepsy, Specific Dysmorphisms, And A Distinct Episignature, Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley Mcconkey, Maria Shvedunova, Andrea K Petersen, Kari Magnussen, Christiane Zweier, Georgia Vasileiou, André Reis, Juliann M Savatt, Meghan R Mulligan, Louise S Bicknell, Gemma Poke, Aya Abu-El-Haija, Jessica Duis, Vickie Hannig, Siddharth Srivastava, Elizabeth Barkoudah, Natalie S Hauser, Myrthe Van Den Born, Uri Hamiel, Noa Henig, Hagit Baris Feldman, Shane Mckee, Ingrid P C Krapels, Yunping Lei, Albena Todorova, Ralitsa Yordanova, Slavena Atemin, Mihael Rogac, Vivienne Mcconnell, Anna Chassevent, Kristin W Barañano, Vandana Shashi, Jennifer A Sullivan, Angela Peron, Maria Iascone, Maria P Canevini, Jennifer Friedman, Iris A Reyes, Janell Kierstein, Joseph J Shen, Faria N Ahmed, Xiao Mao, Berta Almoguera, Fiona Blanco-Kelly, Konrad Platzer, Ariana-Berenike Treu, Juliette Quilichini, Alexia Bourgois, Nicolas Chatron, Louis Januel, Christelle Rougeot, Deanna Alexis Carere, Kristin G Monaghan, Justine Rousseau, Kenneth A Myers, Bekim Sadikovic, Asifa Akhtar, Philippe M Campeau

Faculty, Staff and Students Publications

Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene expression during neurodevelopment. The male-specific lethal (MSL) complex is a prominent multi-subunit epigenetic regulator of gene expression and is responsible for histone 4 lysine 16 acetylation (H4K16ac). Using exome sequencing, here we identify a cohort of 25 individuals with heterozygous de novo variants in MSL complex member MSL2. MSL2 variants were associated with NDD phenotypes including global developmental delay, intellectual disability, hypotonia, and motor issues such as coordination problems, feeding …


Caregiver Recruitment Strategies For Interventions Designed To Optimize Transitions From Hospital To Home: Lessons From A Randomized Trial, Allison M Gustavson, Molly J Horstman, Jodie A Cogswell, Diane E Holland, Catherine E Vanderboom, Jay Mandrekar, William S Harmsen, Brystana G Kaufman, Cory Ingram, Joan M Griffin Jul 2024

Caregiver Recruitment Strategies For Interventions Designed To Optimize Transitions From Hospital To Home: Lessons From A Randomized Trial, Allison M Gustavson, Molly J Horstman, Jodie A Cogswell, Diane E Holland, Catherine E Vanderboom, Jay Mandrekar, William S Harmsen, Brystana G Kaufman, Cory Ingram, Joan M Griffin

Faculty, Staff and Students Publications

Challenges to recruitment of family caregivers exist and are amplified when consent must occur in the context of chaotic healthcare circumstances, such as the transition from hospital to home. The onset of the COVID-19 pandemic during our randomized controlled trial provided an opportunity for a natural experiment exploring and examining different consent processes for caregiver recruitment. The purpose of this publication is to describe different recruitment processes (in-person versus virtual) and compare diversity in recruitment rates in the context of a care recipient's hospitalization. We found rates of family caregiver recruitment for in-person versus virtual were 28% and 23%, respectively …


Pregnancy Outcomes Of Nifedipine Compared With Labetalol For Oral Treatment Of Mild Chronic Hypertension, Ayodeji A Sanusi, Justin Leach, Kim Boggess, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Nancy L Geller, Hui-Chien Kuo, Rachel G Sinkey, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne Quinones, Jeff M Szychowski, Alan T N Tita Jul 2024

Pregnancy Outcomes Of Nifedipine Compared With Labetalol For Oral Treatment Of Mild Chronic Hypertension, Ayodeji A Sanusi, Justin Leach, Kim Boggess, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Nancy L Geller, Hui-Chien Kuo, Rachel G Sinkey, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne Quinones, Jeff M Szychowski, Alan T N Tita

Faculty, Staff and Students Publications

Objective: To evaluate maternal and neonatal outcomes by type of antihypertensive used in participants of the CHAP (Chronic Hypertension in Pregnancy) trial.

Methods: We conducted a planned secondary analysis of CHAP, an open-label, multicenter, randomized trial of antihypertensive treatment compared with standard care (no treatment unless severe hypertension developed) in pregnant patients with mild chronic hypertension (blood pressure 140-159/90-104 mm Hg before 20 weeks of gestation) and singleton pregnancies. We performed three comparisons based on medications prescribed at enrollment: labetalol compared with standard care, nifedipine compared with standard care, and labetalol compared with nifedipine. Although active compared with standard care …


Exome Sequencing Identifies Novel Genes Underlying Primary Congenital Glaucoma In The National Birth Defects Prevention Study, Elizabeth E Blue, Kristin J Moore, Kari E North, Tania A Desrosiers, Suzan L Carmichael, Janson J White, Jessica X Chong, Michael J Bamshad, Mary M Jenkins, Lynn M Almli, Lawrence C Brody, Sharon F Freedman, Jennita Reefhuis, Paul A Romitti, Gary M Shaw, Martha Werler, Denise M Kay, Marilyn L Browne, Marcia L Feldkamp, Richard H Finnell, Wendy N Nembhard, Faith Pangilinan, Andrew F Olshan, National Institutes Of Health Intramural Sequencing Center, University Of Washington Center For Mendelian Genomics, National Birth Defects Prevention Study Jul 2024

Exome Sequencing Identifies Novel Genes Underlying Primary Congenital Glaucoma In The National Birth Defects Prevention Study, Elizabeth E Blue, Kristin J Moore, Kari E North, Tania A Desrosiers, Suzan L Carmichael, Janson J White, Jessica X Chong, Michael J Bamshad, Mary M Jenkins, Lynn M Almli, Lawrence C Brody, Sharon F Freedman, Jennita Reefhuis, Paul A Romitti, Gary M Shaw, Martha Werler, Denise M Kay, Marilyn L Browne, Marcia L Feldkamp, Richard H Finnell, Wendy N Nembhard, Faith Pangilinan, Andrew F Olshan, National Institutes Of Health Intramural Sequencing Center, University Of Washington Center For Mendelian Genomics, National Birth Defects Prevention Study

Faculty, Staff and Students Publications

Background: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.

Methods: We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention …


The Saga Of Covid-19 In Chronic Lung Disease: History Repeats Itself, Amir Sharafkhaneh, Javad Razjouyan Jul 2024

The Saga Of Covid-19 In Chronic Lung Disease: History Repeats Itself, Amir Sharafkhaneh, Javad Razjouyan

Faculty, Staff and Students Publications

No abstract provided.


Sars-Cov-2 Triggers Dickkopf-1 (Dkk-1) Modulation Of T Helper Cells And Lung Pathology In Mice, Yifan Wu, Freedom M Green, Stephen A Shaw, Lauren J Bonilla, Shannon E Ronca, Maria Elena Bottazzi, Farrah Kheradmand, Jill E Weatherhead Jul 2024

Sars-Cov-2 Triggers Dickkopf-1 (Dkk-1) Modulation Of T Helper Cells And Lung Pathology In Mice, Yifan Wu, Freedom M Green, Stephen A Shaw, Lauren J Bonilla, Shannon E Ronca, Maria Elena Bottazzi, Farrah Kheradmand, Jill E Weatherhead

Faculty, Staff and Students Publications

No abstract provided.


Mechanisms Of Gelofusine Protection In An In Vitro Model Of Polymyxin B-Associated Renal Injury, Cole S Hudson, Anirban Roy, Qingtian Li, Aniket S Joshi, Taijun Yin, Ashok Kumar, David Sheikh-Hamad, Vincent H Tam Jul 2024

Mechanisms Of Gelofusine Protection In An In Vitro Model Of Polymyxin B-Associated Renal Injury, Cole S Hudson, Anirban Roy, Qingtian Li, Aniket S Joshi, Taijun Yin, Ashok Kumar, David Sheikh-Hamad, Vincent H Tam

Faculty, Staff and Students Publications

Polymyxins are a last-resort treatment option for multidrug-resistant gram-negative bacterial infections, but they are associated with nephrotoxicity. Gelofusine was previously shown to reduce polymyxin-associated kidney injury in an animal model. However, the mechanism(s) of renal protection has not been fully elucidated. Here, we report the use of a cell culture model to provide insights into the mechanisms of renal protection. Murine epithelial proximal tubular cells were exposed to polymyxin B. Cell viability, lactate dehydrogenase (LDH) release, polymyxin B uptake, mitochondrial superoxide production, nuclear morphology, and apoptosis activation were evaluated with or without concomitant gelofusine. A megalin knockout cell line was …


Author Reply To Letter By Topkan Et Al Regarding Delays In Starting Postoperative Radiotherapy, Kelsey A Duckett, Byung Joo Lee, Bhisham S Chera, Sidharth V Puram, Vlad C Sandulache, Russel Kahmke, Shaun A Nguyen, Brian Nussenbaum, Anthony J Alberg, Chanita Hughes Halbert, Katherine R Sterba, Evan M Graboyes Jul 2024

Author Reply To Letter By Topkan Et Al Regarding Delays In Starting Postoperative Radiotherapy, Kelsey A Duckett, Byung Joo Lee, Bhisham S Chera, Sidharth V Puram, Vlad C Sandulache, Russel Kahmke, Shaun A Nguyen, Brian Nussenbaum, Anthony J Alberg, Chanita Hughes Halbert, Katherine R Sterba, Evan M Graboyes

Faculty, Staff and Students Publications

No abstract provided.


Dna-Delivered Monoclonal Antibodies Targeting The P53 R175h Mutant Epitope Inhibit Tumor Development In Mice, Dafei Chai, Xu Wang, Praveen Neeli, Shan Zhou, Xingfang Yu, Kanaga Sabapathy, Yong Li Jul 2024

Dna-Delivered Monoclonal Antibodies Targeting The P53 R175h Mutant Epitope Inhibit Tumor Development In Mice, Dafei Chai, Xu Wang, Praveen Neeli, Shan Zhou, Xingfang Yu, Kanaga Sabapathy, Yong Li

Faculty, Staff and Students Publications

The tumor suppressor p53 is the most common mutated gene in cancer, with the R175H as the most frequent p53 missense mutant. However, there are currently no approved targeted therapies or immunotherapies against mutant p53. Here, we characterized and investigated a monoclonal antibody (mAb) that recognizes the mutant p53-R175H for its affinity, specificity, and activity against tumor cells in vitro. We then delivered DNA plasmids expressing the anti-R175H mAb or a bispecific antibody (BsAb) into mice to evaluate their therapeutic effects. Our results showed that the anti-R175H mAb specifically bound to the p53-R175H antigen with a high affinity and …


Mean Arterial Pressure And Neonatal Outcomes In Pregnancies Complicated By Mild Chronic Hypertension, Matthew D Moore, Hui-Chien Kuo, Rachel G Sinkey, Kim Boggess, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather A Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Wendy Kinzler, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne N Quiñones, Justin Leach, Ayodeji Sanusi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Jeff M Szychowski, Alan T N Tita Jul 2024

Mean Arterial Pressure And Neonatal Outcomes In Pregnancies Complicated By Mild Chronic Hypertension, Matthew D Moore, Hui-Chien Kuo, Rachel G Sinkey, Kim Boggess, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather A Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Wendy Kinzler, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne N Quiñones, Justin Leach, Ayodeji Sanusi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Jeff M Szychowski, Alan T N Tita

Faculty, Staff and Students Publications

Objective: To estimate the association between mean arterial pressure during pregnancy and neonatal outcomes in participants with chronic hypertension using data from the CHAP (Chronic Hypertension and Pregnancy) trial.

Methods: A secondary analysis of the CHAP trial, an open-label, multicenter randomized trial of antihypertensive treatment in pregnancy, was conducted. The CHAP trial enrolled participants with mild chronic hypertension (blood pressure [BP] 140-159/90-104 mm Hg) and singleton pregnancies less than 23 weeks of gestation, randomizing them to active treatment (maintained on antihypertensive therapy with a goal BP below 140/90 mm Hg) or standard treatment (control; antihypertensives withheld unless BP reached 160 …


Thrombosis Risk Prediction In Lymphoma Patients: A Multi-Institutional, Retrospective Model Development And Validation Study, Shengling Ma, Jennifer La, Kaitlin N Swinnerton, Danielle Guffey, Raka Bandyo, Giordana De Las Pozas, Katy Hanzelka, Xiangjun Xiao, Cristhiam M Rojas-Hernandez, Christopher I Amos, Vipul Chitalia, Katya Ravid, Kelly W Merriman, Christopher R Flowers, Nathanael Fillmore, Ang Li Jul 2024

Thrombosis Risk Prediction In Lymphoma Patients: A Multi-Institutional, Retrospective Model Development And Validation Study, Shengling Ma, Jennifer La, Kaitlin N Swinnerton, Danielle Guffey, Raka Bandyo, Giordana De Las Pozas, Katy Hanzelka, Xiangjun Xiao, Cristhiam M Rojas-Hernandez, Christopher I Amos, Vipul Chitalia, Katya Ravid, Kelly W Merriman, Christopher R Flowers, Nathanael Fillmore, Ang Li

Faculty, Staff and Students Publications

Venous thromboembolism (VTE) poses a significant risk to cancer patients receiving systemic therapy. The generalizability of pan-cancer models to lymphomas is limited. Currently, there are no reliable risk prediction models for thrombosis in patients with lymphoma. Our objective was to create a risk assessment model (RAM) specifically for lymphomas. We performed a retrospective cohort study to develop Fine and Gray sub-distribution hazard model for VTE and pulmonary embolism (PE)/ lower extremity deep vein thrombosis (LE-DVT) respectively in adult lymphoma patients from the Veterans Affairs national healthcare system (VA). External validations were performed at the Harris Health System (HHS) and the …


Achieving Equitable Cardiovascular Care For All: Acc Board Of Trustees Health Equity Task Force Action Plan, Paul L Douglass, Dipti Itchhaporia, Biykem Bozkurt, Robert O Roswell, Akshay Khandelwal, Quinn Capers, Kathryn Berlacher, Modele O Ogunniyi, Alison L Bailey, Phillip D Levy, Aubrey J Grant, Jack Tocco, Angela Natcheva, Akua G Asare, Ami B Bhatt, Jennifer H Mieres, Maghee F Disch, Melvin R Echols Jul 2024

Achieving Equitable Cardiovascular Care For All: Acc Board Of Trustees Health Equity Task Force Action Plan, Paul L Douglass, Dipti Itchhaporia, Biykem Bozkurt, Robert O Roswell, Akshay Khandelwal, Quinn Capers, Kathryn Berlacher, Modele O Ogunniyi, Alison L Bailey, Phillip D Levy, Aubrey J Grant, Jack Tocco, Angela Natcheva, Akua G Asare, Ami B Bhatt, Jennifer H Mieres, Maghee F Disch, Melvin R Echols

Faculty, Staff and Students Publications

Advancements in cardiovascular (CV) disease management are notable, yet health inequities prevail, associated with increased morbidity and mortality noted among non-Hispanic African Americans in the United States. The 2002 Institute of Medicine Report revealed ongoing racial and ethnic health care disparities, spearheading a deeper understanding of the social determinants of health and systemic racism to develop strategies for CV health equity (HE). This article outlines the strategic HE approach of the American College of Cardiology, comprising 6 strategic equity domains: workforce pathway inclusivity, health care, data, science, and tools; education and training; membership, partnership, and collaboration; advocacy and policy; and …


Using Human Intestinal Organoids To Understand The Small Intestine Epithelium At The Single Cell Transcriptional Level, Carolyn Bomidi, Xi-Lei Zeng, Victoria Poplaski, Cristian Coarfa, Mary K Estes, Sarah E Blutt Jun 2024

Using Human Intestinal Organoids To Understand The Small Intestine Epithelium At The Single Cell Transcriptional Level, Carolyn Bomidi, Xi-Lei Zeng, Victoria Poplaski, Cristian Coarfa, Mary K Estes, Sarah E Blutt

Faculty, Staff and Students Publications

Single cell transcriptomics has revolutionized our understanding of the cell biology of the human body. State-of-the-art human small intestinal organoid cultures provide ex vivo model systems that bridge the gap between animal models and clinical studies. The application of single cell transcriptomics to human intestinal organoid (HIO) models is revealing previously unrecognized cell biology, biochemistry, and physiology of the GI tract. The advanced single cell transcriptomics platforms use microfluidic partitioning and barcoding to generate cDNA libraries. These barcoded cDNAs can be easily sequenced by next generation sequencing platforms and used by various visualization tools to generate maps. Here, we describe …


Teaching Bioinformatics Through The Analysis Of Sars-Cov-2: Project-Based Training For Computer Science Students, Pavlin G Poličar, Martin Špendl, Tomaž Curk, Blaž Zupan Jun 2024

Teaching Bioinformatics Through The Analysis Of Sars-Cov-2: Project-Based Training For Computer Science Students, Pavlin G Poličar, Martin Špendl, Tomaž Curk, Blaž Zupan

Faculty, Staff and Students Publications

MOTIVATION: We learn more effectively through experience and reflection than through passive reception of information. Bioinformatics offers an excellent opportunity for project-based learning. Molecular data are abundant and accessible in open repositories, and important concepts in biology can be rediscovered by reanalyzing the data.

RESULTS: In the manuscript, we report on five hands-on assignments we designed for master's computer science students to train them in bioinformatics for genomics. These assignments are the cornerstones of our introductory bioinformatics course and are centered around the study of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). They assume no prior knowledge of molecular …


The Frailty Trajectory's Additional Edge Over The Frailty Index: Retrospective Cohort Study Of Veterans With Heart Failure, Javad Razjouyan, Ariela R Orkaby, Molly J Horstman, Parag Goyal, Orna Intrator, Aanand D Naik Jun 2024

The Frailty Trajectory's Additional Edge Over The Frailty Index: Retrospective Cohort Study Of Veterans With Heart Failure, Javad Razjouyan, Ariela R Orkaby, Molly J Horstman, Parag Goyal, Orna Intrator, Aanand D Naik

Faculty, Staff and Students Publications

No abstract provided.