Medicine and Health Sciences Commons^™

Pleomorphic Dermal Sarcoma Of The Scalp: Review Of Management And Distinguishing Features From Atypical Fibroxanthoma, Alexa J Cohen, Sahithi Talasila, Bojan Lazarevic, Laura Gleason, Viral Patel, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Curating A Knowledge Base For Individuals With Coinfection Of Hiv And Sars-Cov-2: A Study Protocol Of Ehr-Based Data Mining And Clinical Implementation, Chen Liang, Sharon Weissman, Bankole Olatosi, Eric G. Poon, Michael E. Yarrington, Xiaoming Li Ph.D.

Faculty Publications

Introduction Despite a higher risk of severe COVID-19 disease in individuals with HIV, the interactions between SARS-CoV-2 and HIV infections remain unclear. To delineate these interactions, multicentre Electronic Health Records (EHR) hold existing promise to provide fullspectrum and longitudinal clinical data, demographics and sociobehavioural data at individual level. Presently, a comprehensive EHR-based cohort for the HIV/SARS-CoV-2 coinfection has not been established; EHR integration and data mining methods tailored for studying the coinfection are urgently needed yet remain underdeveloped. Methods and analysis The overarching goal of this exploratory/developmental study is to establish an EHR-based cohort for individuals with HIV/SARS-CoV-2 coinfection and …

Bet Inhibition Induces Vulnerability To Mcl1 Targeting Through Upregulation Of Fatty Acid Synthesis Pathway In Breast Cancer, Gonghong Yan, Augustin Luna, Heping Wang, Behnaz Bozorgui, Xubin Li, Maga Sanchez, Zeynep Dereli, Nermin Kahraman, Goknur Kara, Xiaohua Chen, Caishang Zheng, Daniel Mcgrail, Nidhi Sahni, Yiling Lu, Ozgun Babur, Murat Cokol, Bora Lim, Bulent Ozpolat, Chris Sander, Gordon B Mills, Anil Korkut

Faculty, Staff and Student Publications

Therapeutic options for treatment of basal-like breast cancers remain limited. Here, we demonstrate that bromodomain and extra-terminal (BET) inhibition induces an adaptive response leading to MCL1 protein-driven evasion of apoptosis in breast cancer cells. Consequently, co-targeting MCL1 and BET is highly synergistic in breast cancer models. The mechanism of adaptive response to BET inhibition involves the upregulation of lipid synthesis enzymes including the rate-limiting stearoyl-coenzyme A (CoA) desaturase. Changes in lipid synthesis pathway are associated with increases in cell motility and membrane fluidity as well as re-localization and activation of HER2/EGFR. In turn, the HER2/EGFR signaling results in the accumulation …

Exploring The Impact Of Different Durations Of Foam Rolling As A Recovery Technique Following Intense Exercise In College-Aged Males, Connor M. Saker

Seton Hall University Dissertations and Theses (ETDs)

Background: Foam rolling (FR) for recovery from delayed onset muscle soreness (DOMS) and exercise induced muscle damage (EIMD) has received considerable attention because the technique is being a relatively inexpensive and is self-performed. However, there are currently no FR guidelines and the available literature assessing the impact of FR for recovery of muscle soreness is heterogeneous and offers conflicting results. Assessing different FR durations and their impact on recovery may help provide insight to the effectiveness of this technique for recovery from EIMD and DOMS. Purpose: To explore the impact of two different acute durations of FR for the recovery …

Exploring Ghanaian Immigrants' Healthcare Access And Utilization Of The U.S. Health System, Kweku J. Agyeman

Seton Hall University Dissertations and Theses (ETDs)

ABSTRACT

EXPLORING THE GHANAIAN IMMIGRANTS’ HEALTHCARE ACCESS AND

HEALTHCARE UTILIZATION OF U.S. HEALTHCARE SYSTEM

BY

Kweku J. Agyeman

Background and Purpose of the Study: Healthcare access and utilization in the U.S. continue to pose serious challenges to immigrants. Although the U.S. spends the most on healthcare ($3.8 trillion) among developed countries, accessing and utilizing the U.S. healthcare has become an illusion to most immigrants living in the U.S. including Ghanaians. To date, little is known specifically about Ghanaian immigrants’ access and utilization of the U.S. Healthcare system. For Ghanaians and other immigrants to fully understand the complex U.S. Healthcare …

American Society Of Hematology Living Guidelines On The Use Of Anticoagulation For Thromboprophylaxis In Patients With Covid-19: January 2022 Update On The Use Of Therapeutic-Intensity Anticoagulation In Acutely Ill Patients, Adam Cuker, Kristen M Sanfilippo, Et Al

2020-Current year OA Pubs

BACKGROUND: COVID-19-related acute illness is associated with an increased risk of venous thromboembolism (VTE).

OBJECTIVE: These evidence-based guidelines from the American Society of Hematology (ASH) are intended to support patients, clinicians, and other health care professionals in making decisions about the use of anticoagulation in patients with COVID-19.

METHODS: ASH formed a multidisciplinary guideline panel that included patient representatives and applied strategies to minimize potential bias from conflicts of interest. The McMaster University GRADE Centre supported the guideline development process and performed systematic evidence reviews (through November 2021). The panel prioritized clinical questions and outcomes according to their importance for …

Epidemiology Of Pre-Pregnancy Body Mass Index (Bmi) Among Mothers In Abu Dhabi, The United Arab Emirates, Zainab Taha, Ahmed Ali Hassan, Dimitrios Papandreou

All Works

Pre-pregnancy obesity is a risk factor for several health problems such as gestational diabetes, preeclampsia, labor induction, postpartum hemorrhage, and neonatal hypoglycemia. Being underweight is a risk factor for fetal growth restriction. Despite the negative impact of abnormal pre-pregnancy body mass index (BMI) (over and underweight) on pregnancy outcomes, a limited amount of studies has been conducted on the prevalence of pre-pregnancy over and underweight and associated factors in the United Arab Emirates (UAE). Thus, the aim of this study was to investigate the prevalence and factors associated with underweight, overweight, and obesity among mothers with children under the age …

American Society Of Hematology Living Guidelines On The Use Of Anticoagulation For Thromboprophylaxis For Patients With Covid-19: March 2022 Update On The Use Of Anticoagulation In Critically Ill Patients, Adam Cuker, Kristen M Sanfilippo, Et Al

2020-Current year OA Pubs

BACKGROUND: COVID-19-related critical illness is associated with an increased risk of venous thromboembolism (VTE).

OBJECTIVE: These evidence-based guidelines of the American Society of Hematology (ASH) are intended to support patients, clinicians, and other health care professionals in decisions about the use of anticoagulation for patients with COVID-19.

METHODS: ASH formed a multidisciplinary guideline panel, including 3 patient representatives, and applied strategies to minimize potential bias from conflicts of interest. The McMaster University Grading of Recommendations Assessment, Development and Evaluation (GRADE) Centre supported the guideline development process, including performing systematic evidence reviews (up to January 2022). The panel prioritized clinical questions …

Serpinb3 Drives Cancer Stem Cell Survival In Glioblastoma, Adam Lauko, Josephine Volovetz, Soumya M Turaga, Defne Bayik, Daniel J Silver, Kelly Mitchell, Erin E Mulkearns-Hubert, Dionysios C Watson, Kiran Desai, Manav Midha, Jing Hao, Kathleen Mccortney, Alicia Steffens, Ulhas Naik, Manmeet S Ahluwalia, Shideng Bao, Craig Horbinski, Jennifer S Yu, Justin D Lathia

Department of Medicine Faculty Papers

Despite therapeutic interventions for glioblastoma (GBM), cancer stem cells (CSCs) drive recurrence. The precise mechanisms underlying CSC resistance, namely inhibition of cell death, are unclear. We built on previous observations that the high cell surface expression of junctional adhesion molecule-A drives CSC maintenance and identified downstream signaling networks, including the cysteine protease inhibitor SerpinB3. Using genetic depletion approaches, we found that SerpinB3 is necessary for CSC maintenance, survival, and tumor growth, as well as CSC pathway activation. Knockdown of SerpinB3 also increased apoptosis and susceptibility to radiation therapy. SerpinB3 was essential to buffer cathepsin L-mediated cell death, which was enhanced …

Medical Cannabis Treatments, Ariana Esfahani

McNair Research Journal SJSU

This research report examines past research studies on marijuana therapy interventions involving individuals who have Autism Spectrum Disorder, Epilepsy, and Tourette’s Syndrome. These results do not ensure marijuana as a permanent method to cure adverse symptoms for these vulnerable populations. However, these large-scale studies have shown a trend of marijuana being effective for some participants involved in decreasing and/or improving their symptom frequency. This report will contribute to the knowledge pool on the safety and effectiveness of marijuana therapy.

Transcatheter Atrial Septal Defect Closure Before Versus After Adulthood, Mohamed Saber Hafez, Mohamed Ibrahim Abdelrahman El-Sayed, Maiy Hamdy El Sayed

Journal of the Saudi Heart Association

Objectives: To evaluate the long term outcome of patients who underwent percutaneous transcatheter closure of secundum atrial septal defects during teenage life versus adulthood. Methods: The study included 100 patients with secundum type ASD who were treated by transcatheter closure of their defects 2-5 years before enrollment. The study population was subdivided into 2 equal groups: group 1 who underwent transcatheter closure during teenage life (13-19 years) and group 2 who underwent transcatheter closure after the age of 30 years. The two groups were compared according to resting 12 lead ECG, 24 hour Holter ECG and transthoracic echocardiographic findings (Right …

Ada News - 09/12/2022, American Dental Association, Publishing Division

ADA News

Established in 1970 as the official newspaper of the American Dental Association, the ADA News serves practicing dentists and others allied to the dental profession in the U.S. and internationally. It is the No. 1 source of news and information about the many benefits and services the ADA delivers to members daily as well as timely information on scientific, social, political and economic developments affecting dentistry and health care.

2022-09-12_Michiganoverview_Covidbedppe, Michigan Department Of Health & Human Services

Michigan COVID-19 Hospital Data

Contains the tables Statewide Hospital Capacity Report for COVID-19, COVID-19 Metrics, Statewide Hospital Available PPE Tracking for COVID-19, as well as the tables PPE Days On Hand and Patient Census.

Physical Therapists Clinical Instructors Perceptions, Practices And Experience When Supervising An Underperforming Student In Clinical Education, Ruth Lyons Hansen

Seton Hall University Dissertations and Theses (ETDs)

Physical Therapist (PT) clinical instructors’ (CIs) perceptions, practices, and experiences when supervising an underperforming student.

Background: The experience of supervising an underperforming student (UPS) in clinical education and failure to fail (FTF) are described in health professions such as nursing and medicine but there is little description of it in Physical Therapist (PT) clinical education.

Purpose: To explore the PT clinical instructors’ (CIs) perceptions, practices and experience when supervising an under-performing student, and to determine if failure to fail exists in PT clinical education and if so, what organizational, personal, and demographic factors may be related to it.

Methods: …

Toward Informatics-Enabled Preparedness For Natural Hazards To Minimize Health Impacts Of Climate Change, Jimmy Phuong, Naomi O. Riches, Luca Calzoni, Gora Datta, Deborah Duran, Asiyah Yu Lin, Ramesh P. Singh, Anthony E. Solomonides, Noreen Y. Whysel, Ramakanth Kavuluru

Publications and Research

Natural hazards (NHs) associated with climate change have been increasing in frequency and intensity. These acute events impact humans both directly and through their effects on social and environmental determinants of health. Rather than relying on a fully reactive incident response disposition, it is crucial to ramp up preparedness initiatives for worsening case scenarios. In this perspective, we review the landscape of NH effects for human health and explore the potential of health informatics to address associated challenges, specifically from a preparedness angle. We outline important components in a health informatics agenda for hazard preparedness involving hazard-disease associations, social determinants …

Athlete Experiences Of Communication Strategies In Applied Sports Nutrition And Future Considerations For Mobile App Supportive Solutions, David Mark Dunne, Carmen Lefevre-Lewis, Brian Cunniffe, Samuel George Impey, David Tod, Graeme Leonard Close, James P. Morton, Rebecca Murphy

Research outputs 2022 to 2026

Aim:

This study aimed to explore athletes' experiences and opinions of communication strategies in applied sports nutrition, as well as capture suggestions for future mobile app supportive solutions.

Methods:

A qualitative approach was used for this research. Data was generated from semi-structured focus groups (n = 9) with a purposive sample of 41 (male = 24, female = 17) full time professional athletes (mean age 24 ± 4.59) from five sports (football, rugby union, athletics, cycling, and boxing). Data was analyzed using reflexive thematic analysis.

Results:

The analysis identified four higher order themes and five sub themes. Athletes appear dissatisfied …

The Genome And Gene Editing System Of Sea Barleygrass Provide A Novel Platform For Cereal Domestication And Stress Tolerance Studies, Liuhui Kuang, Qiufang Shen, Liyang Chen, Lingzhen Ye, Tao Yan, Zhong-Hua Chen, Robbie Waugh, Qi Li, Lu Huang, Shengguan Cai, Liangbo Fu, Pengwei Xing, Kai Wang, Jiari Shao, Feibo Wu, Lixi Jiang, Dezhi Wu, Guoping Zhang

Publications

The tribe Triticeae provides important staple cereal crops and contains elite wild species with wide genetic diversity and high tolerance to abiotic stresses. Sea barleygrass (Hordeum marinum Huds.), a wild Triticeae species, thrives in saline marshlands and is well known for its high tolerance to salinity and waterlogging. Here, a 3.82-Gb high-quality reference genome of sea barleygrass is assembled de novo, with 3.69 Gb (96.8%) of its sequences anchored onto seven chromosomes. In total, 41 045 high-confidence (HC) genes are annotated by homology, de novo prediction, and transcriptome analysis. Phylogenetics, non-synonymous/synonymous mutation ratios (Ka/Ks), and transcriptomic and functional analyses provide …

Clonal Hematopoiesis Of Indeterminate Potential, Dna Methylation, And Risk For Coronary Artery Disease, M D Mesbah Uddin, Ngoc Quynh H Nguyen, Bing Yu, Jennifer A Brody, Akhil Pampana, Tetsushi Nakao, Myriam Fornage, Jan Bressler, Nona Sotoodehnia, Joshua S Weinstock, Michael C Honigberg, Daniel Nachun, Romit Bhattacharya, Gabriel K Griffin, Varuna Chander, Richard A Gibbs, Jerome I Rotter, Chunyu Liu, Andrea A Baccarelli, Daniel I Chasman, Eric A Whitsel, Douglas P Kiel, Joanne M Murabito, Eric Boerwinkle, Benjamin L Ebert, Siddhartha Jaiswal, James S Floyd, Alexander G Bick, Christie M Ballantyne, Bruce M Psaty, Pradeep Natarajan, Karen N Conneely

Faculty, Staff and Student Publications

Age-related changes to the genome-wide DNA methylation (DNAm) pattern observed in blood are well-documented. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by the age-related acquisition and expansion of leukemogenic mutations in hematopoietic stem cells (HSCs), is associated with blood cancer and coronary artery disease (CAD). Epigenetic regulators DNMT3A and TET2 are the two most frequently mutated CHIP genes. Here, we present results from an epigenome-wide association study for CHIP in 582 Cardiovascular Health Study (CHS) participants, with replication in 2655 Atherosclerosis Risk in Communities (ARIC) Study participants. We show that DNMT3A and TET2 CHIP have distinct and directionally opposing genome-wide …

Intouch September 12, 2022, New York Medical College

InTouch

• The Inaugural Dr. Melvin H. Amler Prize for Innovation to be Announced
• Maridalia Lillis Helped Provide Critical Health Care While on a Medical Mission to Honduras
• 29th Annual Faculty Author Celebration and Awards Set for September 21
• Monica McHenry, Ph.D., CCC-SLP, Fights Stigma Surrounding Speech Disorders Through Her Work and Teaching

Openkbp-Opt: An International And Reproducible Evaluation Of 76 Knowledge-Based Planning Pipelines, Aaron Babier, Rafid Mahmood, Binghao Zhang, Victor G L Alves, Ana Maria Barragán-Montero, Joel Beaudry, Carlos E Cardenas, Yankui Chang, Zijie Chen, Jaehee Chun, Kelly Diaz, Harold David Eraso, Erik Faustmann, Sibaji Gaj, Skylar Gay, Mary Gronberg, Bingqi Guo, Junjun He, Gerd Heilemann, Sanchit Hira, Yuliang Huang, Fuxin Ji, Dashan Jiang, Jean Carlo Jimenez Giraldo, Hoyeon Lee, Jun Lian, Shuolin Liu, Keng-Chi Liu, José Marrugo, Kentaro Miki, Kunio Nakamura, Tucker Netherton, Dan Nguyen, Hamidreza Nourzadeh, Alexander F I Osman, Zhao Peng, José Darío Quinto Muñoz, Christian Ramsl, Dong Joo Rhee, Juan David Rodriguez, Hongming Shan, Jeffrey V Siebers, Mumtaz H Soomro, Kay Sun, Andrés Usuga Hoyos, Carlos Valderrama, Rob Verbeek, Enpei Wang, Siri Willems, Qi Wu, Xuanang Xu, Sen Yang, Lulin Yuan, Simeng Zhu, Lukas Zimmermann, Kevin L Moore, Thomas G Purdie, Andrea L Mcniven, Timothy C Y Chan

Faculty, Staff and Student Publications

Objective.To establish an open framework for developing plan optimization models for knowledge-based planning (KBP).

Approach.Our framework includes radiotherapy treatment data (i.e. reference plans) for 100 patients with head-and-neck cancer who were treated with intensity-modulated radiotherapy. That data also includes high-quality dose predictions from 19 KBP models that were developed by different research groups using out-of-sample data during the OpenKBP Grand Challenge. The dose predictions were input to four fluence-based dose mimicking models to form 76 unique KBP pipelines that generated 7600 plans (76 pipelines × 100 patients). The predictions and KBP-generated plans were compared to the reference …

Accepting Uncomfortable Emotions: Learning From Car Dashboards And Manure, Jacob D. Gossner, Elizabeth B. Fauth, Tasha Howard

All Current Publications

Agricultural producers can face many stressors, such as long hours coupled with challenging, unpredictable conditions, which can give rise to challenging thoughts and feelings at times. Phrases you may hear in modern culture as you approach difficulty may be "pull yourself together," "quit worrying," or "get over it." However, these aren't the best processes for working through hard emotions. Cultivating acceptance is a way to combat traditional rationalization and work through emotions.

Implementation Of A Provider-Focused Intervention For Maximizing Human Papillomavirus (Hpv) Vaccine Uptake In Young Cancer Survivors Receiving Follow-Up Care In Pediatric Oncology Practices: Protocol For A Cluster-Randomized Trial Of The Hpv Protect Intervention, Wendy Landier, Smita Bhatia, Joshua S Richman, Paula D Campos Gonzalez, Brooke Cherven, Veronica Chollette, Jamie Aye, Sharon M Castellino, Maria M Gramatges, Susan Lindemulder, Thomas B Russell, Lucie M Turcotte, Graham A Colditz, Melissa B Gilkey, James L Klosky

2020-Current year OA Pubs

BACKGROUND: Childhood cancer survivors are at high risk for developing new cancers (such as cervical and anal cancer) caused by persistent infection with the human papillomavirus (HPV). HPV vaccination is effective in preventing the infections that lead to these cancers, but HPV vaccine uptake is low among young cancer survivors. Lack of a healthcare provider recommendation is the most common reason that cancer survivors fail to initiate the HPV vaccine. Strategies that are most successful in increasing HPV vaccine uptake in the general population focus on enhancing healthcare provider skills to effectively recommend the vaccine, and reducing barriers faced by …

Transmembrane Helices Mediate The Formation Of A Stable Ternary Complex Of B5r, Cyt B5, And Scd1, Jiemin Shen, Gang Wu, Ah-Lim Tsai, Ming Zhou

Faculty, Staff and Students Publications

Mammalian cytochrome b5 (cyt b5) and cytochrome b5 reductase (b5R) are electron carrier proteins for membrane-embedded oxidoreductases. Both b5R and cyt b5 have a cytosolic domain and a single transmembrane (TM) helix. The cytosolic domains of b5R and cyt b5 contain cofactors required for electron transfer, but it is not clear if the TM helix has function beyond being an anchor to the membrane. Here we show that b5R and cyt b5 form a stable binary complex, and so do cyt b5 and stearoyl-CoA desaturase-1 (SCD1). We also show that b5R, cyt b5 and SCD1 form a stable ternary complex. …

Social Media Impact Of Articles Published By Dermatology Residents During Medical School: Cross-Sectional Study, Austin Huang, Harrison Zhu, Kelvin Zhou, R Parker Kirby, Nina Dasari, Gianmarco A Calderara, Kathryn Cordova, Ryan Sorensen, Anshul Bhatnagar, Soo Jung Kim

Faculty, Staff and Students Publications

BACKGROUND: The Altmetric score (AS) is a novel measure of publication impact that is calculated by the number of mentions across various social media websites. This method may have advantages over traditional bibliometrics in the context of research by medical students.

OBJECTIVE: This study aimed to determine whether dermatology matriculants who graduated from higher-ranked medical schools published more articles with greater impact (ie, a higher AS) than those from lower-ranked institutions.

METHODS: A PubMed search for articles published by dermatology residents who started medical school in 2020 was conducted. Demographic information and Altmetric data were collected, and medical schools were …

Septic Cardiomyopathy: From Pathophysiology To The Clinical Setting, Federico Carbone, Luca Liberale, Alberto Preda, Thomas Hellmut Schindler, Fabrizio Montecucco

2020-Current year OA Pubs

The onset of cardiomyopathy is a common feature in sepsis, with relevant effects on its pathophysiology and clinical care. Septic cardiomyopathy is characterized by reduced left ventricular (LV) contractility eventually associated with LV dilatation with or without right ventricle failure. Unfortunately, such a wide range of ultrasonographic findings does not reflect a deep comprehension of sepsis-induced cardiomyopathy, but rather a lack of consensus about its definition. Several echocardiographic parameters intrinsically depend on loading conditions (both preload and afterload) so that it may be challenging to discriminate which is primitive and which is induced by hemodynamic perturbances. Here, we explore the …

Computer-Vision-Based Vibration Tracking Using A Digital Camera: A Sparse-Optical-Flow-Based Target Tracking Method, Guang-Yu Nie, Saran Srikanth Bodda, Harleen Kaur Sandhu, Kevin Han, Abhinav Gupta

Faculty, Staff and Student Publications

Computer-vision-based target tracking is a technology applied to a wide range of research areas, including structural vibration monitoring. However, current target tracking methods suffer from noise in digital image processing. In this paper, a new target tracking method based on the sparse optical flow technique is introduced for improving the accuracy in tracking the target, especially when the target has a large displacement. The proposed method utilizes the Oriented FAST and Rotated BRIEF (ORB) technique which is based on FAST (Features from Accelerated Segment Test), a feature detector, and BRIEF (Binary Robust Independent Elementary Features), a binary descriptor. ORB maintains …

Phylogenetic Diversity Of Animal Oral And Gastrointestinal Viromes Useful In Surveillance Of Zoonoses, Anthony Michael Esposito, Michelle Marie Esposito, Albert Ptashnik

Publications and Research

Great emphasis has been placed on bacterial microbiomes in human and animal systems. In recent years, advances in metagenomics have allowed for the detection and characterization of more and more native viral particles also residing in these organisms. The digestive tracts of animals and humans—from the oral cavity, to the gut, to fecal excretions—have become one such area of interest. Next-generation sequencing and bioinformatic analyses have uncovered vast phylogenetic virome diversity in companion animals, such as dogs and cats, as well as farm animals and wildlife such as bats. Zoonotic and arthropod-borne illnesses remain major causes of worldwide outbreaks, as …

A Case Study Of Adapting A Health Insurance Decision Intervention From Trial Into Routine Cancer Care, Miles E Charles, Lindsay M Kuroki, Ana A Baumann, Rachel G Tabak, Aimee James, Krista Cooksey, Mary C Politi

2020-Current year OA Pubs

OBJECTIVE: This study adapted Improving Cancer Patients' Insurance Choices (I Can PIC), an intervention to help cancer patients navigate health insurance decisions and care costs. The original intervention improved knowledge and confidence making insurance decisions, however, users felt limited by choices provided in insurance markets. Using decision trees and frameworks to guide adaptations, we modified I Can PIC to focus on using rather than choosing health insurance. The COVID-19 pandemic introduced unforeseen obstacles, prompting changes to study protocols. As a result, we allowed users outside of the study to use I Can PIC (> 1050 guest users) to optimize public …

Whole-Exome Sequencing Of 14 389 Individuals From The Esp And Charge Consortia Identifies Novel Rare Variation Associated With Hemostatic Factors, Nathan Pankratz, Peng Wei, Jennifer A Brody, Ming-Huei Chen, Paul S De Vries, Jennifer E Huffman, Mary Rachel Stimson, Paul L Auer, Eric Boerwinkle, Mary Cushman, Moniek P M De Maat, Aaron R Folsom, Oscar H Franco, Richard A Gibbs, Kelly K Haagenson, Albert Hofman, Jill M Johnsen, Christie L Kovar, Robert Kraaij, Barbara Mcknight, Ginger A Metcalf, Donna Muzny, Bruce M Psaty, Weihong Tang, André G Uitterlinden, Jeroen G J Van Rooij, Abbas Dehghan, Christopher J O'Donnell, Alex P Reiner, Alanna C Morrison, Nicholas L Smith

Faculty, Staff and Student Publications

Plasma levels of fibrinogen, coagulation factors VII and VIII and von Willebrand factor (vWF) are four intermediate phenotypes that are heritable and have been associated with the risk of clinical thrombotic events. To identify rare and low-frequency variants associated with these hemostatic factors, we conducted whole-exome sequencing in 10 860 individuals of European ancestry (EA) and 3529 African Americans (AAs) from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium and the National Heart, Lung and Blood Institute's Exome Sequencing Project. Gene-based tests demonstrated significant associations with rare variation (minor allele frequency < 5%) in fibrinogen gamma chain (FGG) (with fibrinogen, P = 9.1 × 10-13), coagulation factor VII (F7) (with factor VII, P = 1.3 × 10-72; seven novel variants) and VWF (with factor VIII and vWF; P = 3.2 × 10-14; one novel variant). These eight novel rare variant associations were independent of the known common variants at these loci and tended to have much larger effect sizes. In addition, one of the rare novel variants in F7 was significantly associated with an increased risk of venous thromboembolism in AAs (Ile200Ser; rs141219108; P = 4.2 × 10-5). After restricting gene-based analyses to only loss-of-function variants, a novel significant association was detected and replicated between factor VIII levels and a stop-gain mutation exclusive to AAs (rs3211938) in CD36 molecule (CD36). This variant has previously been linked to dyslipidemia but not with the levels of a hemostatic factor. These efforts represent the largest integration of whole-exome sequence data from two national projects to identify genetic variation associated with plasma hemostatic factors.

Tissue Rotation Of The Xenopus Anterior–Posterior Neural Axis Reveals Profound But Transient Plasticity At The Mid-Gastrula Stage, Lyuba Bolkhovitinov, Bryan T Weselman, Gladys A Shaw, Chen Dong, Janhavi Giribhattanavar, Margaret S Saha

2020-Current year OA Pubs

The establishment of anterior-posterior (AP) regional identity is an essential step in the appropriate development of the vertebrate central nervous system. An important aspect of AP neural axis formation is the inherent plasticity that allows developing cells to respond to and recover from the various perturbations that embryos continually face during the course of development. While the mechanisms governing the regionalization of the nervous system have been extensively studied, relatively less is known about the nature and limits of early neural plasticity of the anterior-posterior neural axis. This study aims to characterize the degree of neural axis plasticity in