Public Health Commons^™

Clinical Outcomes And Bacterial Characteristics Of Carbapenem-Resistant Klebsiella Pneumoniae Complex Among Patients From Different Global Regions (Crackle-2): A Prospective, Multicentre, Cohort Study, Minggui Wang, Michelle Earley, Liang Chen, Blake M Hanson, Yunsong Yu, Zhengyin Liu, Soraya Salcedo, Eric Cober, Lanjuan Li, Souha S Kanj, Hainv Gao, Jose M Munita, Karen Ordoñez, Greg Weston, Michael J Satlin, Sandra L Valderrama-Beltrán, Kalisvar Marimuthu, Martin E Stryjewski, Lauren Komarow, Courtney Luterbach, Steve H Marshall, Susan D Rudin, Claudia Manca, David L Paterson, Jinnethe Reyes, Maria V Villegas, Scott Evans, Carol Hill, Rebekka Arias, Keri Baum, Bettina C Fries, Yohei Doi, Robin Patel, Barry N Kreiswirth, Robert A Bonomo, Henry F Chambers, Vance G Fowler, Cesar A Arias, David Van Duin, Multi-Drug Resistant Organism Network Investigators

Faculty, Staff and Student Publications

BACKGROUND: Carbapenem-resistant Klebsiella pneumoniae (CRKP) is a global threat. We therefore analysed the bacterial characteristics of CRKP infections and the clinical outcomes of patients with CRKP infections across different countries.

METHODS: In this prospective, multicentre, cohort study (CRACKLE-2), hospitalised patients with cultures positive for CRKP were recruited from 71 hospitals in Argentina, Australia, Chile, China, Colombia, Lebanon, Singapore, and the USA. The first culture positive for CRKP was included for each unique patient. Clinical data on post-hospitalisation death and readmission were collected from health records, and whole genome sequencing was done on all isolates. The primary outcome was a desirability …

Clonal Hematopoiesis Is Associated With Higher Risk Of Stroke, Romit Bhattacharya, Seyedeh M Zekavat, Jeffrey Haessler, Myriam Fornage, Laura Raffield, Md Mesbah Uddin, Alexander G Bick, Abhishek Niroula, Bing Yu, Christopher Gibson, Gabriel Griffin, Alanna C Morrison, Bruce M Psaty, William T Longstreth, Joshua C Bis, Stephen S Rich, Jerome I Rotter, Russell P Tracy, Adolfo Correa, Sudha Seshadri, Andrew Johnson, Jason M Collins, Kathleen M Hayden, Tracy E Madsen, Christie M Ballantyne, Siddhartha Jaiswal, Benjamin L Ebert, Charles Kooperberg, Joann E Manson, Eric A Whitsel, Nhlbi Trans-Omics For Precision Medicine Program, Pradeep Natarajan, Alexander P Reiner

Faculty, Staff and Student Publications

Background and purpose: Clonal hematopoiesis of indeterminate potential (CHIP) is a novel age-related risk factor for cardiovascular disease-related morbidity and mortality. The association of CHIP with risk of incident ischemic stroke was reported previously in an exploratory analysis including a small number of incident stroke cases without replication and lack of stroke subphenotyping. The purpose of this study was to discover whether CHIP is a risk factor for ischemic or hemorrhagic stroke.

Methods: We utilized plasma genome sequence data of blood DNA to identify CHIP in 78 752 individuals from 8 prospective cohorts and biobanks. We then assessed the association …

Fungi: Friend Or Foe? A Mycobiome Evaluation In Children With Autism And Gastrointestinal Symptoms, Jane Alookaran, Yuying Liu, Thomas A Auchtung, Amirali Tahanan, Manouchehr Hessabi, Parisa Asgarisabet, Mohammad H Rahbar, Nicole Y Fatheree, Deborah A Pearson, Rosleen Mansour, Melissa R Van Arsdall, Fernando Navarro, J Marc Rhoads

Faculty, Staff and Student Publications

Gastrointestinal (GI) symptoms often affect children with autism spectrum disorders (ASD) and GI symptoms have been associated with an abnormal fecal microbiome. There is limited evidence of Candida species being more prevalent in children with ASD. We enrolled 20 children with ASD and GI symptoms (ASD + GI), 10 children with ASD but no GI symptoms (ASD - GI), and 20 from typically developing (TD) children in this pilot study. Fecal mycobiome taxa were analyzed by Internal Transcribed Spacer sequencing. GI symptoms (GI Severity Index [GSI]), behavioral symptoms (Social Responsiveness Scale -2 [SRS-2]), inflammation and fungal immunity (fecal calprotectin and …

Assessing The Contribution Of Rare Variants To Complex Trait Heritability From Whole-Genome Sequence Data, Pierrick Wainschtein, Deepti Jain, Zhili Zheng, Topmed Anthropometry Working Group, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, L Adrienne Cupples, Aladdin H Shadyab, Barbara Mcknight, Benjamin M Shoemaker, Braxton D Mitchell, Bruce M Psaty, Charles Kooperberg, Ching-Ti Liu, Christine M Albert, Dan Roden, Daniel I Chasman, Dawood Darbar, Donald M Lloyd-Jones, Donna K Arnett, Elizabeth A Regan, Eric Boerwinkle, Jerome I Rotter, Jeffrey R O'Connell, Lisa R Yanek, Mariza De Andrade, Matthew A Allison, Merry-Lynn N Mcdonald, Mina K Chung, Myriam Fornage, Nathalie Chami, Nicholas L Smith, Patrick T Ellinor, Ramachandran S Vasan, Rasika A Mathias, Ruth J F Loos, Stephen S Rich, Steven A Lubitz, Susan R Heckbert, Susan Redline, Xiuqing Guo, Y -D Ida Chen, Cecelia A Laurie, Ryan D Hernandez, Stephen T Mcgarvey, Michael E Goddard, Cathy C Laurie, Kari E North, Leslie A Lange, Bruce S Weir, Loic Yengo, Jian Yang, Peter M Visscher

Faculty, Staff and Student Publications

Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error …

Community-Clinic Linkages For Promoting Hiv Prevention: Organizational Networks For Prep Client Referrals And Collaborations, Rebecca L Mauldin, Tamara Al Rawwad, Muhammad Amith, Lisa M Kuhns, John A Schneider, Kayo Fujimoto

Faculty, Staff and Student Publications

Community-clinic linkages may help communities increase HIV pre-exposure prophylaxis (PrEP) uptake. Referrals from community-based organizations may be particularly important for linking Black men who have sex with men (MSM) to PrEP. This study describes PrEP referral and HIV/STI prevention networks among organizations that serve MSM in Houston, TX (N = 40), and Chicago, IL (N = 28), and compares network positions of organizations based on percentage of Black/African American clients. A majority of organizations conducted PrEP awareness/promotion activities, but fewer made PrEP referrals, with little overlap between the collaboration and referral networks. The networks tended to have a …

Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes In 454,193 Individuals Across 13 Cohorts, Daniel Dicorpo, Jessica Leclair, Joanne B Cole, Chloé Sarnowski, Fariba Ahmadizar, Lawrence F Bielak, Anneke Blokstra, Erwin P Bottinger, Layal Chaker, Yii-Der I Chen, Ye Chen, Paul S De Vries, Tariq Faquih, Mohsen Ghanbari, Valborg Gudmundsdottir, Xiuqing Guo, Natalie R Hasbani, Dorina Ibi, M Arfan Ikram, Maryam Kavousi, Hampton L Leonard, Aaron Leong, Josep M Mercader, Alanna C Morrison, Girish N Nadkarni, Mike A Nalls, Raymond Noordam, Michael Preuss, Jennifer A Smith, Stella Trompet, Petra Vissink, Jie Yao, Wei Zhao, Eric Boerwinkle, Mark O Goodarzi, Vilmundur Gudnason, J Wouter Jukema, Sharon L R Kardia, Ruth J F Loos, Ching-Ti Liu, Alisa K Manning, Dennis Mook-Kanamori, James S Pankow, H Susan J Picavet, Naveed Sattar, Eleanor M Simonsick, W M Monique Verschuren, Ko Willems Van Dijk, Jose C Florez, Jerome I Rotter, James B Meigs, Josée Dupuis, Miriam S Udler

Faculty, Staff and Student Publications

OBJECTIVE: Type 2 diabetes (T2D) has heterogeneous patient clinical characteristics and outcomes. In previous work, we investigated the genetic basis of this heterogeneity by clustering 94 T2D genetic loci using their associations with 47 diabetes-related traits and identified five clusters, termed β-cell, proinsulin, obesity, lipodystrophy, and liver/lipid. The relationship between these clusters and individual-level metabolic disease outcomes has not been assessed.

RESEARCH DESIGN AND METHODS: Here we constructed individual-level partitioned polygenic scores (pPS) for these five clusters in 12 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank (n = 454,193) …

Cancer Incidence, Mortality, Years Of Life Lost, Years Lived With Disability, And Disability-Adjusted Life Years For 29 Cancer Groups From 2010 To 2019: A Systematic Analysis For The Global Burden Of Disease Study 2019, Jonathan M Kocarnik, Kelly Compton, Frances E Dean, Weijia Fu, Brian L Gaw, James D Harvey, Hannah Jacqueline Henrikson, Dan Lu, Alyssa Pennini, Rixing Xu, Emad Ababneh, Mohsen Abbasi-Kangevari, Hedayat Abbastabar, Sherief M Abd-Elsalam, Amir Abdoli, Aidin Abedi, Hassan Abidi, Hassan Abolhassani, Isaac Akinkunmi Adedeji, Qorinah Estiningtyas Sakilah Adnani, Shailesh M Advani, Muhammad Sohail Afzal, Mohammad Aghaali, Bright Opoku Ahinkorah, Sajjad Ahmad, Tauseef Ahmad, Ali Ahmadi, Sepideh Ahmadi, Tarik Ahmed Rashid, Yusra Ahmed Salih, Gizachew Taddesse Akalu, Addis Aklilu, Tayyaba Akram, Chisom Joyqueenet Akunna, Hanadi Al Hamad, Fares Alahdab, Ziyad Al-Aly, Saqib Ali, Yousef Alimohamadi, Vahid Alipour, Syed Mohamed Aljunid, Motasem Alkhayyat, Amir Almasi-Hashiani, Nihad A Almasri, Sadeq Ali Ali Al-Maweri, Sami Almustanyir, Nivaldo Alonso, Nelson Alvis-Guzman, Hubert Amu, Etsay Woldu Anbesu, Robert Ancuceanu, Fereshteh Ansari, Alireza Ansari-Moghaddam, Maxwell Hubert Antwi, Davood Anvari, Anayochukwu Edward Anyasodor, Muhammad Aqeel, Jalal Arabloo, Morteza Arab-Zozani, Olatunde Aremu, Hany Ariffin, Timur Aripov, Muhammad Arshad, Al Artaman, Judie Arulappan, Zatollah Asemi, Mohammad Asghari Jafarabadi, Tahira Ashraf, Prince Atorkey, Avinash Aujayeb, Marcel Ausloos, Atalel Fentahun Awedew, Beatriz Paulina Ayala Quintanilla, Temesgen Ayenew, Mohammed A Azab, Sina Azadnajafabad, Amirhossein Azari Jafari, Ghasem Azarian, Ahmed Y Azzam, Ashish D Badiye, Saeed Bahadory, Atif Amin Baig, Jennifer L Baker, Senthilkumar Balakrishnan, Maciej Banach, Till Winfried Bärnighausen, Francesco Barone-Adesi, Fabio Barra, Amadou Barrow, Masoud Behzadifar, Uzma Iqbal Belgaumi, Woldesellassie M Mequanint Bezabhe, Yihienew Mequanint Bezabih, Devidas S Bhagat, Akshaya Srikanth Bhagavathula, Nikha Bhardwaj, Pankaj Bhardwaj, Sonu Bhaskar, Krittika Bhattacharyya, Vijayalakshmi S Bhojaraja, Sadia Bibi, Ali Bijani, Antonio Biondi, Catherine Bisignano, Tone Bjørge, Archie Bleyer, Oleg Blyuss, Obasanjo Afolabi Bolarinwa, Srinivasa Rao Bolla, Dejana Braithwaite, Amanpreet Brar, Hermann Brenner, Maria Teresa Bustamante-Teixeira, Nadeem Shafique Butt, Zahid A Butt, Florentino Luciano Caetano Dos Santos, Yin Cao, Giulia Carreras, Ferrán Catalá-López, Francieli Cembranel, Ester Cerin, Achille Cernigliaro, Raja Chandra Chakinala, Soosanna Kumary Chattu, Vijay Kumar Chattu, Pankaj Chaturvedi, Odgerel Chimed-Ochir, Daniel Youngwhan Cho, Devasahayam J Christopher, Dinh-Toi Chu, Michael T Chung, Joao Conde, Sanda Cortés, Paolo Angelo Cortesi, Vera Marisa Costa, Amanda Ramos Cunha, Omid Dadras, Amare Belachew Dagnew, Saad M A Dahlawi, Xiaochen Dai, Lalit Dandona, Rakhi Dandona, Aso Mohammad Darwesh, José Das Neves, Fernando Pio De La Hoz, Asmamaw Bizuneh Demis, Edgar Denova-Gutiérrez, Deepak Dhamnetiya, Mandira Lamichhane Dhimal, Meghnath Dhimal, Mostafa Dianatinasab, Daniel Diaz, Shirin Djalalinia, Huyen Phuc Do, Saeid Doaei, Fariba Dorostkar, Francisco Winter Dos Santos Figueiredo, Tim Robert Driscoll, Hedyeh Ebrahimi, Sahar Eftekharzadeh, Maha El Tantawi, Hassan El-Abid, Iffat Elbarazi, Hala Rashad Elhabashy, Muhammed Elhadi, Shaimaa I El-Jaafary, Babak Eshrati, Sharareh Eskandarieh, Firooz Esmaeilzadeh, Arash Etemadi, Sayeh Ezzikouri, Mohammed Faisaluddin, Emerito Jose A Faraon, Jawad Fares, Farshad Farzadfar, Abdullah Hamid Feroze, Simone Ferrero, Lorenzo Ferro Desideri, Irina Filip, Florian Fischer, James L Fisher, Masoud Foroutan, Takeshi Fukumoto, Peter Andras Gaal, Mohamed M Gad, Muktar A Gadanya, Silvano Gallus, Mariana Gaspar Fonseca, Abera Getachew Obsa, Mansour Ghafourifard, Ahmad Ghashghaee, Nermin Ghith, Maryam Gholamalizadeh, Syed Amir Gilani, Themba G Ginindza, Abraham Tamirat T Gizaw, James C Glasbey, Mahaveer Golechha, Pouya Goleij, Ricardo Santiago Gomez, Sameer Vali Gopalani, Giuseppe Gorini, Houman Goudarzi, Giuseppe Grosso, Mohammed Ibrahim Mohialdeen Gubari, Maximiliano Ribeiro Guerra, Avirup Guha, D Sanjeeva Gunasekera, Bhawna Gupta, Veer Bala Gupta, Vivek Kumar Gupta, Reyna Alma Gutiérrez, Nima Hafezi-Nejad, Mohammad Rifat Haider, Arvin Haj-Mirzaian, Rabih Halwani, Randah R Hamadeh, Sajid Hameed, Samer Hamidi, Asif Hanif, Shafiul Haque, Netanja I Harlianto, Josep Maria Haro, Ahmed I Hasaballah, Soheil Hassanipour, Roderick J Hay, Simon I Hay, Khezar Hayat, Golnaz Heidari, Mohammad Heidari, Brenda Yuliana Herrera-Serna, Claudiu Herteliu, Kamal Hezam, Ramesh Holla, Md Mahbub Hossain, Mohammad Bellal Hossain Hossain, Mohammad-Salar Hosseini, Mostafa Hosseini, Mehdi Hosseinzadeh, Mihaela Hostiuc, Sorin Hostiuc, Mowafa Househ, Mohamed Hsairi, Junjie Huang, Fernando N Hugo, Rabia Hussain, Nawfal R Hussein, Bing-Fang Hwang, Ivo Iavicoli, Segun Emmanuel Ibitoye, Fidelia Ida, Kevin S Ikuta, Olayinka Stephen Ilesanmi, Irena M Ilic, Milena D Ilic, Lalu Muhammad Irham, Jessica Y Islam, Rakibul M Islam, Sheikh Mohammed Shariful Islam, Nahlah Elkudssiah Ismail, Gaetano Isola, Masao Iwagami, Louis Jacob, Vardhmaan Jain, Mihajlo B Jakovljevic, Tahereh Javaheri, Shubha Jayaram, Seyed Behzad Jazayeri, Ravi Prakash Jha, Jost B Jonas, Tamas Joo, Nitin Joseph, Farahnaz Joukar, Mikk Jürisson, Ali Kabir, Danial Kahrizi, Leila R Kalankesh, Rohollah Kalhor, Feroze Kaliyadan, Yogeshwar Kalkonde, Ashwin Kamath, Nawzad Kameran Al-Salihi, Himal Kandel, Neeti Kapoor, André Karch, Ayele Semachew Kasa, Srinivasa Vittal Katikireddi, Joonas H Kauppila, Taras Kavetskyy, Sewnet Adem Kebede, Pedram Keshavarz, Mohammad Keykhaei, Yousef Saleh Khader, Rovshan Khalilov, Gulfaraz Khan, Maseer Khan, Md Nuruzzaman Khan, Moien A B Khan, Young-Ho Khang, Amir M Khater, Maryam Khayamzadeh, Gyu Ri Kim, Yun Jin Kim, Adnan Kisa, Sezer Kisa, Katarzyna Kissimova-Skarbek, Jacek A Kopec, Rajasekaran Koteeswaran, Parvaiz A Koul, Sindhura Lakshmi Koulmane Laxminarayana, Ai Koyanagi, Burcu Kucuk Bicer, Nuworza Kugbey, G Anil Kumar, Narinder Kumar, Nithin Kumar, Om P Kurmi, Tezer Kutluk, Carlo La Vecchia, Faris Hasan Lami, Iván Landires, Paolo Lauriola, Sang-Woong Lee, Shaun Wen Huey Lee, Wei-Chen Lee, Yo Han Lee, James Leigh, Elvynna Leong, Jiarui Li, Ming-Chieh Li, Xuefeng Liu, Joana A Loureiro, Raimundas Lunevicius, Muhammed Magdy Abd El Razek, Azeem Majeed, Alaa Makki, Shilpa Male, Ahmad Azam Malik, Mohammad Ali Mansournia, Santi Martini, Seyedeh Zahra Masoumi, Prashant Mathur, Martin Mckee, Ravi Mehrotra, Walter Mendoza, Ritesh G Menezes, Endalkachew Worku Mengesha, Mohamed Kamal Mesregah, Tomislav Mestrovic, Junmei Miao Jonasson, Bartosz Miazgowski, Tomasz Miazgowski, Irmina Maria Michalek, Ted R Miller, Hamed Mirzaei, Hamid Reza Mirzaei, Sanjeev Misra, Prasanna Mithra, Masoud Moghadaszadeh, Karzan Abdulmuhsin Mohammad, Yousef Mohammad, Mokhtar Mohammadi, Seyyede Momeneh Mohammadi, Abdollah Mohammadian-Hafshejani, Shafiu Mohammed, Nagabhishek Moka, Ali H Mokdad, Mariam Molokhia, Lorenzo Monasta, Mohammad Ali Moni, Mohammad Amin Moosavi, Yousef Moradi, Paula Moraga, Joana Morgado-Da-Costa, Shane Douglas Morrison, Abbas Mosapour, Sumaira Mubarik, Lillian Mwanri, Ahamarshan Jayaraman Nagarajan, Shankar Prasad Nagaraju, Chie Nagata, Mukhammad David Naimzada, Vinay Nangia, Atta Abbas Naqvi, Sreenivas Narasimha Swamy, Rawlance Ndejjo, Sabina O Nduaguba, Ionut Negoi, Serban Mircea Negru, Sandhya Neupane Kandel, Cuong Tat Nguyen, Huong Lan Thi Nguyen, Robina Khan Niazi, Chukwudi A Nnaji, Nurulamin M Noor, Virginia Nuñez-Samudio, Chimezie Igwegbe Nzoputam, Bogdan Oancea, Chimedsuren Ochir, Oluwakemi Ololade Odukoya, Felix Akpojene Ogbo, Andrew T Olagunju, Babayemi Oluwaseun Olakunde, Emad Omar, Ahmed Omar Bali, Abidemi E Emmanuel Omonisi, Sokking Ong, Obinna E Onwujekwe, Hans Orru, Doris V Ortega-Altamirano, Nikita Otstavnov, Stanislav S Otstavnov, Mayowa O Owolabi, Mahesh P A, Jagadish Rao Padubidri, Keyvan Pakshir, Adrian Pana, Demosthenes Panagiotakos, Songhomitra Panda-Jonas, Shahina Pardhan, Eun-Cheol Park, Eun-Kee Park, Fatemeh Pashazadeh Kan, Harsh K Patel, Jenil R Patel, Siddhartha Pati, Sanjay M Pattanshetty, Uttam Paudel, David M Pereira, Renato B Pereira, Arokiasamy Perianayagam, Julian David Pillay, Saeed Pirouzpanah, Farhad Pishgar, Indrashis Podder, Maarten J Postma, Hadi Pourjafar, Akila Prashant, Liliana Preotescu, Mohammad Rabiee, Navid Rabiee, Amir Radfar, Raghu Anekal Radhakrishnan, Venkatraman Radhakrishnan, Ata Rafiee, Fakher Rahim, Shadi Rahimzadeh, Mosiur Rahman, Muhammad Aziz Rahman, Amir Masoud Rahmani, Nazanin Rajai, Aashish Rajesh, Ivo Rakovac, Pradhum Ram, Kiana Ramezanzadeh, Kamal Ranabhat, Priyanga Ranasinghe, Chythra R Rao, Sowmya J Rao, Reza Rawassizadeh, Mohammad Sadegh Razeghinia, Andre M N Renzaho, Negar Rezaei, Nima Rezaei, Aziz Rezapour, Thomas J Roberts, Jefferson Antonio Buendia Rodriguez, Peter Rohloff, Michele Romoli, Luca Ronfani, Gholamreza Roshandel, Godfrey M Rwegerera, Manjula S, Siamak Sabour, Basema Saddik, Umar Saeed, Amirhossein Sahebkar, Harihar Sahoo, Sana Salehi, Marwa Rashad Salem, Hamideh Salimzadeh, Mehrnoosh Samaei, Abdallah M Samy, Juan Sanabria, Senthilkumar Sankararaman, Milena M Santric-Milicevic, Yaeesh Sardiwalla, Arash Sarveazad, Brijesh Sathian, Monika Sawhney, Mete Saylan, Ione Jayce Ceola Schneider, Mario Sekerija, Allen Seylani, Omid Shafaat, Zahra Shaghaghi, Masood Ali Shaikh, Erfan Shamsoddin, Mohammed Shannawaz, Rajesh Sharma, Aziz Sheikh, Sara Sheikhbahaei, Adithi Shetty, Jeevan K Shetty, Pavanchand H Shetty, Kenji Shibuya, Reza Shirkoohi, K M Shivakumar, Velizar Shivarov, Soraya Siabani, Sudeep K Siddappa Malleshappa, Diego Augusto Santos Silva, Jasvinder A Singh, Yitagesu Sintayehu, Valentin Yurievich Skryabin, Anna Aleksandrovna Skryabina, Matthew J Soeberg, Ahmad Sofi-Mahmudi, Houman Sotoudeh, Paschalis Steiropoulos, Kurt Straif, Ranjeeta Subedi, Mu'awiyyah Babale Sufiyan, Iyad Sultan, Saima Sultana, Daniel Sur, Viktória Szerencsés, Miklós Szócska, Rafael Tabarés-Seisdedos, Takahiro Tabuchi, Hooman Tadbiri, Amir Taherkhani, Ken Takahashi, Iman M Talaat, Ker-Kan Tan, Vivian Y Tat, Bemnet Amare A Tedla, Yonas Getaye Tefera, Arash Tehrani-Banihashemi, Mohamad-Hani Temsah, Fisaha Haile Tesfay, Gizachew Assefa Tessema, Rekha Thapar, Aravind Thavamani, Viveksandeep Thoguluva Chandrasekar, Nihal Thomas, Hamid Reza Tohidinik, Mathilde Touvier, Marcos Roberto Tovani-Palone, Eugenio Traini, Bach Xuan Tran, Khanh Bao Tran, Mai Thi Ngoc Tran, Jaya Prasad Tripathy, Biruk Shalmeno Tusa, Irfan Ullah, Saif Ullah, Krishna Kishore Umapathi, Bhaskaran Unnikrishnan, Era Upadhyay, Marco Vacante, Maryam Vaezi, Sahel Valadan Tahbaz, Diana Zuleika Velazquez, Massimiliano Veroux, Francesco S Violante, Vasily Vlassov, Bay Vo, Victor Volovici, Giang Thu Vu, Yasir Waheed, Richard G Wamai, Paul Ward, Yi Feng Wen, Ronny Westerman, Andrea Sylvia Winkler, Lalit Yadav, Seyed Hossein Yahyazadeh Jabbari, Lin Yang, Sanni Yaya, Taklo Simeneh Yazie Yazie, Yigizie Yeshaw, Naohiro Yonemoto, Mustafa Z Younis, Zabihollah Yousefi, Chuanhua Yu, Deniz Yuce, Ismaeel Yunusa, Vesna Zadnik, Fariba Zare, Mikhail Sergeevich Zastrozhin, Anasthasia Zastrozhina, Jianrong Zhang, Chenwen Zhong, Linghui Zhou, Cong Zhu, Arash Ziapour, Ivan R Zimmermann, Christina Fitzmaurice, Christopher J L Murray, Lisa M Force

Faculty, Staff and Student Publications

IMPORTANCE: The Global Burden of Diseases, Injuries, and Risk Factors Study 2019 (GBD 2019) provided systematic estimates of incidence, morbidity, and mortality to inform local and international efforts toward reducing cancer burden.

OBJECTIVE: To estimate cancer burden and trends globally for 204 countries and territories and by Sociodemographic Index (SDI) quintiles from 2010 to 2019.

EVIDENCE REVIEW: The GBD 2019 estimation methods were used to describe cancer incidence, mortality, years lived with disability, years of life lost, and disability-adjusted life years (DALYs) in 2019 and over the past decade. Estimates are also provided by quintiles of the SDI, a composite …

Brain Stereotactic Radiosurgery Using Mr-Guided Online Adaptive Planning For Daily Setup Variation: An End-To-End Test, Eun Young Han, He Wang, Tina Marie Briere, Debra Nana Yeboa, Themistoklis Boursianis, Georgios Kalaitzakis, Evangelos Pappas, Pamela Castillo, Jinzhong Yang

Faculty, Staff and Student Publications

Online magnetic resonance (MR)-guided radiotherapy is expected to benefit brain stereotactic radiosurgery (SRS) due to superior soft tissue contrast and capability of daily adaptive planning. The purpose of this study was to investigate daily adaptive plan quality with setup variations and to perform an end-to-end test for brain SRS with multiple metastases treated with a 1.5-Tesla MR-Linac (MRL). The RTsafe PseudoPatient Prime brain phantom was used with a delineation insert that includes two predefined structures mimicking gadolinium contrast-enhanced brain lesions. Daily adaptive plans were generated using six preset and six random setup variations. Two adaptive plans per daily MR image …

Younger Age Of Stroke In Low-Middle Income Countries Is Related To Healthcare Access And Quality, Mohammad H Rahbar, Martin Medrano, Franck Diaz-Garelli, Cosme Gonzalez Villaman, Sepideh Saroukhani, Sori Kim, Amirali Tahanan, Yahaira Franco, Gelanys Castro-Tejada, Sarah A Diaz, Manouchehr Hessabi, Sean I Savitz

Faculty, Staff and Student Publications

Stroke is the second leading cause of mortality globally with higher burden and younger age in low-middle income countries (LMICs) than high-income countries (HICs). However, it is unclear to what extent differences in healthcare access and quality (HAQ) and prevalence of risk factors between LMICs and HICs contribute to younger age of stroke in LMICs. In this systematic review, we conducted meta-analysis of 67 articles and compared the mean age of stroke between LMICs and HICs, before and after adjusting for HAQ index. We also compared the prevalence of main stroke risk factors between HICs and LMICs. The unadjusted mean …

Elucidating The Clinical Spectrum And Molecular Basis Of Hyal2 Deficiency, James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natasha Osawa, Megan Christine Rodriguez, Teresa M Neuhann, Elaine H Zackai, Beth Keena, Jenina Capasso, Alex V Levin, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ingrid M Wentzensen, Adam Jackson, Kate E Chandler, Zeynep H Coban-Akdemir, Jennifer E Posey, Siddharth Banka, James R Lupski, Sarah E Sheppard, Marco Tartaglia, Barbara Triggs-Raine, Andrew H Crosby, Emma L Baple

Faculty, Staff and Student Publications

PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotypes. In this study, we better define the phenotype and pathologic disease mechanism.

METHODS: Clinical and genomic investigations were undertaken alongside molecular studies, including immunoblotting and immunofluorescence analyses of variant/wild-type human HYAL2 expressed in mouse fibroblasts, and in silico modeling of putative pathogenic variants.

RESULTS: Ten newly identified individuals with this condition were investigated, and they were associated with 9 novel pathogenic variants. Clinical studies defined genotype-phenotype correlations and …

Tissue-Targeted Crispr-Cas9-Mediated Genome Editing Of Multiple Homeologs In F0 Generation Xenopus Laevis Embryos, Mark E Corkins, Bridget D Delay, Rachel K Miller

Faculty, Staff and Student Publications

Xenopus laevis frogs are a powerful developmental model that enables studies combining classical embryology and molecular manipulation. Because of the large embryo size, ease of microinjection, and ability to target tissues through established fate maps, X. laevis have become the predominant amphibian research model. Given that their allotetraploid genome has complicated the generation of gene knockouts, strategies need to be established for efficient mutagenesis of multiple homeologs to evaluate gene function. Here we describe a protocol to utilize CRISPR-Cas9-mediated genome editing to target either single alleles or multiple alloalleles in F0 X. laevis embryos. A single guide (sg) RNA is …

Of Vascular Defense, Hemostasis, Cancer, And Platelet Biology: An Evolutionary Perspective, David G Menter, Vahid Afshar-Kharghan, John Paul Shen, Stephanie L Martch, Anirban Maitra, Scott Kopetz, Kenneth V Honn, Anil K Sood

Faculty, Staff and Student Publications

We have established considerable expertise in studying the role of platelets in cancer biology. From this expertise, we were keen to recognize the numerous venous-, arterial-, microvascular-, and macrovascular thrombotic events and immunologic disorders are caused by severe, acute-respiratory-syndrome coronavirus 2 (SARS-CoV-2) infections. With this offering, we explore the evolutionary connections that place platelets at the center of hemostasis, immunity, and adaptive phylogeny. Coevolutionary changes have also occurred in vertebrate viruses and their vertebrate hosts that reflect their respective evolutionary interactions. As mammals adapted from aquatic to terrestrial life and the heavy blood loss associated with placentalization-based live birth, platelets …

In Silico Analysis Of Dnd1 And Its Co-Expressed Genes In Human Cancers, Yun Zhang, Yafang Li, Dhruv Chachad, Bin Liu, Jyotsna D Godavarthi, Abie Williams-Villalobo, Latifat Lasisi, Shunbin Xiong, Angabin Matin

Faculty, Staff and Students Publications

Dead-End (DND1) is an RNA-binding protein involved in translational regulation. Defects in DND1 gene causes germ cell tumors and sterility in rodents. Experimental studies with human somatic cancer cells indicate that DND1 has anti-proliferative and pro-apoptotic function in some while oncogenic function in other cells. We examined The Cancer Genome Atlas data for gene alterations and gene expression changes in DND1 in a variety of human cancers. We found that DND1 is amplified, deleted or mutated in multiple human cancers. In different cancers, DND1 alteration correlates with increased diagnosis age of patients, shift in tumor spectrum or change of tumor …

A Call For An Integrated Approach To Improve Efficiency, Equity And Sustainability In Rare Disease Research In The United States, Meghan C Halley, Hadley Stevens Smith, Euan A Ashley, Aaron J Goldenberg, Holly K Tabor

Faculty, Staff and Students Publications

To build a more efficient, equitable, and sustainable approach to rare disease research in the United States, we must prioritize integrated research infrastructure and approaches that focus on understanding connections across rare diseases.

'Analogy-Based Comprehensive Diabetes Education' (Abcde) Improves Glycemic Control Of Diabetic Patients In An Underserved Population: Results Of A Retrospective Chart Analysis, Rajagopal V Sekhar

Faculty, Staff and Students Publications

Diabetes is the leading global cause for blindness, kidney failure and amputations. Preventing these complications requires optimal glycemic control, and it is imperative that diabetic patients understand the fundamental concepts of diabetes care. Although patients attend formal diabetes education classes, many do not comprehend basic concepts of diabetes, and are often noncompliant with diet, exercise and medications. A novel approach termed 'analogy-based comprehensive diabetes education' (ABCDE) was developed to educate HIV-patients with diabetes about basic concepts of diabetes care. The object of this manuscript is to report the results of a retrospective chart review on the impact of ABCDE on …

Crare Coding Variants In Rcn3 Are Associated With Blood Pressure, Karen Y He, Tanika N Kelly, Heming Wang, Jingjing Liang, Luke Zhu, Brian E Cade, Themistocles L Assimes, Lewis C Becker, Amber L Beitelshees, Lawrence F Bielak, Adam P Bress, Jennifer A Brody, Yen-Pei Christy Chang, Yi-Cheng Chang, Paul S De Vries, Ravindranath Duggirala, Ervin R Fox, Nora Franceschini, Anna L Furniss, Yan Gao, Xiuqing Guo, Jeffrey Haessler, Yi-Jen Hung, Shih-Jen Hwang, Marguerite Ryan Irvin, Rita R Kalyani, Ching-Ti Liu, Chunyu Liu, Lisa Warsinger Martin, May E Montasser, Paul M Muntner, Stanford Mwasongwe, Take Naseri, Walter Palmas, Muagututi'a Sefuiva Reupena, Kenneth M Rice, Wayne H-H Sheu, Daichi Shimbo, Jennifer A Smith, Beverly M Snively, Lisa R Yanek, Wei Zhao, John Blangero, Eric Boerwinkle, Yii-Der Ida Chen, Adolfo Correa, L Adrienne Cupples, Joanne E Curran, Myriam Fornage, Jiang He, Lifang Hou, Robert C Kaplan, Sharon L R Kardia, Eimear E Kenny, Charles Kooperberg, Donald Lloyd-Jones, Ruth J F Loos, Rasika A Mathias, Stephen T Mcgarvey, Braxton D Mitchell, Kari E North, Patricia A Peyser, Bruce M Psaty, Laura M Raffield, D C Rao, Susan Redline, Alex P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Russell Tracy, Ramachandran S Vasan, Samoan Obesity, Lifestyle And Genetic Adaptations Study (Olaga) Group, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Alanna C Morrison, Daniel Levy, Aravinda Chakravarti, Donna K Arnett, Xiaofeng Zhu

Faculty, Staff and Student Publications

BACKGROUND: While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of …

Applying Evidence-Based Intervention (Ebi) Mapping To Identify The Components And Logic Of Colorectal Cancer Screening Interventions, Jacob Szeszulski, Derek W Craig, Timothy J Walker, Maya Foster, Patricia Dolan Mullen, Maria E Fernandez

Faculty, Staff and Student Publications

Implementation of evidence-based interventions (EBIs) can help to increase colorectal cancer screening (CRCS). Potential users of CRCS EBIs are often unclear about the specific features, logic, and core elements of existing EBIs, making it challenging to use or adapt them. We used EBI Mapping, a systematic process developed from Intervention Mapping that identifies an EBI's components and logic, to characterize existing CRCS EBIs from the National Cancer Institute's Evidence-Based Cancer Control Programs website. The resulting information can facilitate intervention adoption, adaptation, and/or implementation. Two trained coders independently coded intervention materials to describe intervention components and logic (n = 20). We …

Differences In Psychosocial Constructs Among Elementary School Staff That Implement Physical Activity Programs: A Step In Designing Implementation Strategies, Jacob Szeszulski, Timothy J Walker, Michael C Robertson, Maria E Fernandez

Faculty, Staff and Student Publications

Multiple types of school staff members (e.g., classroom teachers, principals) are involved in implementing physical activity programs (e.g., classroom-based, gym), but factors specific to their job responsibilities may inhibit their ability to implement programming effectively. Thus, implementation strategies tailored by job type may be needed. We compare perceptions of behavioral constructs related to implementation of school-based physical activity programs, by job type, among school staff. School staff (n = 139), including principals/assistant principals (n = 21), physical education teachers (n = 41), and classroom teachers (n = 77), from elementary schools (n = 25), completed a cross-sectional survey measuring perceptions …

Fully Resolved Assembly Of Cryptosporidium Parvum, Vipin K Menon, Pablo C Okhuysen, Cynthia L Chappell, Medhat Mahmoud, Medhat Mahmoud, Qingchang Meng, Harsha Doddapaneni, Vanesa Vee, Yi Han, Sejal Salvi, Sravya Bhamidipati, Kavya Kottapalli, George Weissenberger, Hua Shen, Matthew C Ross, Kristi L Hoffman, Sara Javornik Cregeen, Donna M Muzny, Ginger A Metcalf, Richard A Gibbs, Joseph F Petrosino, Fritz J Sedlazeck

Faculty, Staff and Student Publications

BACKGROUND: Cryptosporidium parvum is an apicomplexan parasite commonly found across many host species with a global infection prevalence in human populations of 7.6%. Understanding its diversity and genomic makeup can help in fighting established infections and prohibiting further transmission. The basis of every genomic study is a high-quality reference genome that has continuity and completeness, thus enabling comprehensive comparative studies.

FINDINGS: Here, we provide a highly accurate and complete reference genome of Cryptosporidium parvum. The assembly is based on Oxford Nanopore reads and was improved using Illumina reads for error correction. We also outline how to evaluate and choose from …

The Association Between Rest-Activity Rhythms And Glycemic Markers: The Us National Health And Nutrition Examination Survey, 2011-2014, Qian Xiao, Charles E Matthews, Mary Playdon, Cici Bauer

Faculty, Staff and Student Publications

OBJECTIVES: Previous studies conducted in mostly homogeneous sociodemographic samples have reported a relationship between weakened and/or disrupted rest-activity patterns and metabolic dysfunction. This study aims to examine rest-activity rhythm characteristics in relation to glycemic markers in a large nationally representative and diverse sample of American adults.

METHODS: This study used data from the National Health and Nutrition Examination Survey 2011-2014. Rest-activity characteristics were derived from extended cosine models using 24-hour actigraphy. We used multinomial logistic regression and multiple linear regression models to assess the associations with multiple glycemic markers (i.e., glycated hemoglobin, fasting glucose and insulin, homeostatic model assessment of …

Reducing Influenza Virus Transmission: The Potential Value Of Antiviral Treatment, Frederick G Hayden, Jason Asher, Benjamin J Cowling, Aeron C Hurt, Hideyuki Ikematsu, Klaus Kuhlbusch, Annabelle Lemenuel-Diot, Zhanwei Du, Lauren Ancel Meyers, Pedro A Piedra, Takahiro Takazono, Hui-Ling Yen, Arnold S Monto

Faculty, Staff and Students Publications

Prompt antiviral treatment has the potential to reduce influenza virus transmission to close contacts, but rigorous data on the magnitude of treatment effects on transmission are limited. Animal model data indicate that rapid reductions in viral replication after antiviral treatment reduce the risk of transmission. Observational and clinical trial data with oseltamivir and other neuraminidase inhibitors indicate that prompt treatment of household index patients seems to reduce the risk of illness in contacts, although the magnitude of the reported effects has varied widely across studies. In addition, the potential risk of transmitting drug-resistant variants exists with all approved classes of …

Sars-Cov-2 Infection Increases Risk Of Acute Kidney Injury In A Bimodal Age Distribution, Erica C Bjornstad, Gary Cutter, Pramod Guru, Shina Menon, Isabella Aldana, Scott House, Nancy M Tofil, Catherine A St Hill, Yasir Tarabichi, Valerie M Banner-Goodspeed, Amy B Christie, Surapaneni Krishna Mohan, Devang Sanghavi, Jarrod M Mosier, Girish Vadgaonkar, Allan J Walkey, Rahul Kashyap, Vishakha K Kumar, Vikas Bansal, Karen Boman, Mayank Sharma, Marija Bogojevic, Neha Deo, Lynn Retford, Ognjen Gajic, Katja M Gist, Sccm Discovery Virus Investigators Group

Faculty, Staff and Students Publications

BACKGROUND: Hospitalized patients with SARS-CoV2 develop acute kidney injury (AKI) frequently, yet gaps remain in understanding why adults seem to have higher rates compared to children. Our objectives were to evaluate the epidemiology of SARS-CoV2-related AKI across the age spectrum and determine if known risk factors such as illness severity contribute to its pattern.

METHODS: Secondary analysis of ongoing prospective international cohort registry. AKI was defined by KDIGO-creatinine only criteria. Log-linear, logistic and generalized estimating equations assessed odds ratios (OR), risk differences (RD), and 95% confidence intervals (CIs) for AKI and mortality adjusting for sex, pre-existing comorbidities, race/ethnicity, illness severity, …

Translating Research Into Practice-Implementation Recommendations For Pediatric Rheumatology; Proceedings Of The Childhood Arthritis And Rheumatology Research Alliance 2020 Implementation Science Retreat, Cagri Yildirim-Toruner, Rajdeep Pooni, Y Ingrid Goh, Emily Becker-Haimes, James W Dearing, Maria E Fernandez, Esi M Morgan, Gareth Parry, Jon M Burnham, Stacy P Ardoin, Fatima Barbar-Smiley, Joyce C Chang, Peter Chiraseveenuprapund, Vincent Del Gaizo, Guy Eakin, Lisa C Johnson, Yukiko Kimura, Andrea M Knight, Melanie Kohlheim, Erica F Lawson, Mindy S Lo, Nancy Pan, Andrea Ring, Tova Ronis, Rebecca E Sadun, Emily A Smitherman, Alysha J Taxter, Janalee Taylor, Richard K Vehe, Sheetal S Vora, Jennifer E Weiss, Emily Von Scheven, Mas For The Carra Implementation Science Workgroup

Faculty, Staff and Student Publications

The translation of research findings into clinical practice is challenging, especially fields like in pediatric rheumatology, where the evidence base is limited, there are few clinical trials, and the conditions are rare and heterogeneous. Implementation science methodologies have been shown to reduce the research- to- practice gap in other clinical settings may have similar utility in pediatric rheumatology. This paper describes the key discussion points from the inaugural Childhood Arthritis and Rheumatology Research Alliance Implementation Science retreat held in February 2020. The aim of this report is to synthesize those findings into an Implementation Science Roadmap for pediatric rheumatology research. …

Comparison Of Sexually Transmitted Infections And Adverse Perinatal Outcomes In Underserved Pregnant Patients Before Vs During The Covid-19 Pandemic In Texas, Irene A Stafford, Jennie O Coselli, Danielle F Wilson, Courtney Y Wang, Baha M Sibai

Faculty, Staff and Student Publications

This cohort study assesses the rates of sexually transmitted infections (STI) and associated adverse perinatal outcomes among underserved pregnant patients during the COVID-19 pandemic in a public health system in Southeastern Texas.

Covid-19 Hospital And Emergency Department Visitor Policies In The United States: Impact On Persons With Cognitive Or Physical Impairment Or Receiving End-Of-Life Care, Alexander X Lo, Logan K Wedel, Shan W Liu, Thiti Wongtangman, Phraewa Thatphet, Ilianna Santangelo, Anita N Chary, Paul D Biddinger, Corita R Grudzen, Maura Kennedy

Faculty, Staff and Students Publications

OBJECTIVE: To characterize the national distribution of COVID-19 hospital and emergency department visitor restriction policies across the United States, focusing on patients with cognitive or physical impairment or receiving end-of-life care.

METHODS: Cross-sectional study of visitor policies and exceptions, using a nationally representative random sample of EDs and hospitals during the first wave of the COVID-19 pandemic, by trained study investigators using standardized instrument.

RESULTS: Of the 352 hospitals studied, 326 (93%) had a COVID-19 hospital-wide visitor restriction policy and 164 (47%) also had an ED-specific policy. Hospital-wide policies were more prevalent at academic than non-academic (96% vs 90%;

CONCLUSION: …

Snp Characteristics And Validation Success In Genome Wide Association Studies, Olga Y Gorlova, Xiangjun Xiao, Spiridon Tsavachidis, Christopher I Amos, Ivan P Gorlov

Faculty, Staff and Students Publications

Genome wide association studies (GWASs) have identified tens of thousands of single nucleotide polymorphisms (SNPs) associated with human diseases and characteristics. A significant fraction of GWAS findings can be false positives. The gold standard for true positives is an independent validation. The goal of this study was to identify SNP features associated with validation success. Summary statistics from the Catalog of Published GWASs were used in the analysis. Since our goal was an analysis of reproducibility, we focused on the diseases/phenotypes targeted by at least 10 GWASs. GWASs were arranged in discovery-validation pairs based on the time of publication, with …

A Large-Scale Transcriptome-Wide Association Study (Twas) Of 10 Blood Cell Phenotypes Reveals Complexities Of Twas Fine-Mapping, Amanda L Tapia, Bryce T Rowland, Jonathan D Rosen, Michael Preuss, Kris Young, Misa Graff, Hélène Choquet, David J Couper, Steve Buyske, Stephanie A Bien, Eric Jorgenson, Charles Kooperberg, Ruth J F Loos, Alanna C Morrison, Kari E North, Bing Yu, Alexander P Reiner, Yun Li, Laura M Raffield

Faculty, Staff and Student Publications

Hematological measures are important intermediate clinical phenotypes for many acute and chronic diseases and are highly heritable. Although genome-wide association studies (GWAS) have identified thousands of loci containing trait-associated variants, the causal genes underlying these associations are often uncertain. To better understand the underlying genetic regulatory mechanisms, we performed a transcriptome-wide association study (TWAS) to systematically investigate the association between genetically predicted gene expression and hematological measures in 54,542 Europeans from the Genetic Epidemiology Research on Aging cohort. We found 239 significant gene-trait associations with hematological measures; we replicated 71 associations at p < 0.05 in a TWAS meta-analysis consisting of up to 35,900 Europeans from the Women's Health Initiative, Atherosclerosis Risk in Communities Study, and BioMe Biobank. Additionally, we attempted to refine this list of candidate genes by performing conditional analyses, adjusting for individual variants previously associated with hematological measures, and performed further fine-mapping of TWAS loci. To facilitate interpretation of our findings, we designed an R Shiny application to interactively visualize our TWAS results by integrating them with additional genetic data sources (GWAS, TWAS from multiple reference panels, conditional analyses, known GWAS variants, etc.). Our results and application highlight frequently overlooked TWAS challenges and illustrate the complexity of TWAS fine-mapping.

Genetic Errors Of Immunity Distinguish Pediatric Nonmalignant Lymphoproliferative Disorders, Lisa R Forbes, Olive S Eckstein, Nitya Gulati, Erin C Peckham-Gregory, Nmazuo W Ozuah, Joseph Lubega, Nader K El-Mallawany, Jennifer E Agrusa, M Cecilia Poli, Tiphanie P Vogel, Natalia S Chaimowitz, Nicholas L Rider, Emily M Mace, Jordan S Orange, Jason W Caldwell, Juan C Aldave-Becerra, Stephen Jolles, Francesco Saettini, Hey J Chong, Asbjorg Stray-Pedersen, Helen E Heslop, Kala Y Kamdar, R Helen Rouce, Donna M Muzny, Shalini N Jhangiani, Richard A Gibbs, Zeynep H Coban-Akdemir, James R Lupski, Kenneth L Mcclain, Carl E Allen, Ivan K Chinn

Faculty, Staff and Student Publications

BACKGROUND: Pediatric nonmalignant lymphoproliferative disorders (PLPDs) are clinically and genetically heterogeneous. Long-standing immune dysregulation and lymphoproliferation in children may be life-threatening, and a paucity of data exists to guide evaluation and treatment of children with PLPD.

OBJECTIVE: The primary objective of this study was to ascertain the spectrum of genomic immunologic defects in PLPD. Secondary objectives included characterization of clinical outcomes and associations between genetic diagnoses and those outcomes.

METHODS: PLPD was defined by persistent lymphadenopathy, lymph organ involvement, or lymphocytic infiltration for more than 3 months, with or without chronic or significant Epstein-Barr virus (EBV) infection. Fifty-one subjects from …

Spatial Epidemiology: An Empirical Framework For Syndemics Research, Shikhar Shrestha, Cici X C Bauer, Brian Hendricks, Thomas J Stopka

Faculty, Staff and Student Publications

Syndemics framework describes two or more co-occurring epidemics that synergistically interact with each other and the complex structural social forces that sustain them leading to excess disease burden. The term syndemic was first used to describe the interaction between substance abuse, violence, and AIDS by Merrill Singer. A broader range of syndemic studies has since emerged describing the framework's applicability to other public health scenarios. With syndemic theory garnering significant attention, the focus is shifting towards developing robust empirical analytical approaches. Unfortunately, the complex nature of the disease-disease interactions nested within several social contexts complicates empirical analyses. In answering the …

Operational Effect Of Covid-19 On Surgical Care At A Tertiary Pediatric Hospital, Andrew M Ferry, Rami P Dibbs, Amanda Ward, Veronica Velez, Sarah L Ringold, Nakeisha M Archer, Janet M Winebar, Dean B Andropoulos, Larry H Hollier

Faculty, Staff and Students Publications

The detrimental effects of the coronavirus disease 2019 (COVID-19) pandemic have profoundly disrupted surgical care at health care facilities worldwide. At our tertiary pediatric hospital, we made substantial adjustments to surgical suite utilization and staff member scheduling to account for reductions in surgical volume, increased demand for staff members in other sectors of the hospital, and the highly infectious properties of the virus. Perioperative leaders took advantage of the pandemic's disruption to clinical activities to design and implement a new procedure-scheduling process to rectify the inefficiencies that had accumulated as the previous system evolved. The implementation of said directives was …