Medicine and Health Sciences Commons^™

Genome-Wide Association Study Provides Novel Insight Into The Genetic Architecture Of Severe Obesity, Mohanraj Krishnan, Mohammad Yaser Anwar, Anne E Justice, Geetha Chittoor, Hung-Hsin Chen, Rashedeh Roshani, Alyssa Scartozzi, Rachel R Dickerson, Roelof A J Smit, Michael H Preuss, Nathalie Chami, Benjamin S Hadad, Esteban J Parra, Miguel Cruz, Qin Hui, Peter W F Wilson, Yan V Sun, Xiaoyu Zhang, Gregorio V Linchangco, Sharon L R Kardia, Jessica D Faul, David R Weir, Lawrence F Bielak, Heather M Highland, Kristin L Young, Baiyu Qi, Yujie Wang, Myriam Fornage, Christopher Haiman, Iona Cheng, Ulrike Peters, Charles Kooperberg, Steven Buyske, Joseph B Mccormick, Susan P Fisher-Hoch, Frida Lona-Durazo, Jesus Peralta, Jamie Gomez-Zamudio, Stephen S Rich, Kendra R Ferrier, Ethan M Lange, Christopher R Gignoux, Eimear E Kenny, Genevieve L Wojcik, Kelly Cho, Michael J Gaziano, Luc Djousse, Shuwei Liu, Dhananjay Vaidya, Renée De Mutsert, Navya S Josyula, Christopher R Bauer, Wei Zhao, Ryan W Walker, Jennifer A Smith, Leslie A Lange, Mariah C Meyer, Ching-Ti Liu, Lisa R Yanek, Miryoung Lee, Laura M Raffield, Ruth J F Loos, Penny Gordon-Larsen, Jennifer E Below, Kari E North, Mariaelisa Graff

The Brown Foundation: Institute of Molecular Medicine

Severe obesity (SevO) is a primary driver of cardiovascular diseases (CVD), cardiometabolic diseases (CMD) and several cancers, with a disproportionate impact on marginalized populations. SevO is an understudied global health disease, limiting knowledge about its mechanisms and impacts. In genome-wide association study (GWAS) meta-analyses of the tail end of the BMI distribution (≥95th percentile BMI) and two SevO phenotypes [Obesity Class III BMI ≥ 40 kg/m2 and Obesity Class IV BMI ≥ 50 kg/m2] in 159,359 individuals across eleven ancestrally diverse population-based studies followed by replication in 480,897 individuals across six ancestrally diverse studies, we identified and replicated three novel …

Utilization Of Outpatient Mental Health Services During And 2 Years After The Covid-19 Pandemic, Michelle A Hayek, Hye-Chung Kum, Sulki Park, Robert Ohsfeldt, Mark A Lawley, Michelle J Bovin

The Brown Foundation: Institute of Molecular Medicine

Objective: Analyze the impact of COVID-19 on outpatient mental health (OP-MH) utilization patterns, particularly telehealth, across eight different MH conditions with a 2-year follow-up.

Methods: This population-based cohort study uses a 5% random sample of Medicare beneficiaries aged ≥18 and newly diagnosed with one of the eight MH disorders: psychotic, depressive, bipolar, anxiety, trauma-related, substance-use, other MH disorders, and two or more MH disorders. Monthly OP-MH utilization patterns were compared among patients in 2020-2021 newly diagnosed in 2019 to comparable prepandemic cohorts newly diagnosed in 2017. Multiple logistic regression models were conducted to examine differences in telehealth utilization across MH …

Patients´ Characteristics And Six-Month Outcomes Of Patients With Atrial Fibrillation In Kenya: A Retrospective Observational Cohort Study From The National Cardiovascular Registry, Salim Abdallah, Jasmit Shah, Anders Barasa, Felix Barasa, Benard Gitura, Mzee Ngunga

Internal Medicine, East Africa

Introduction: atrial fibrillation is increasingly diagnosed in Kenya due to the persistence of rheumatic heart disease and the rising burden of cardiovascular risk factors. We aim to describe the baseline, clinical, treatment characteristics, and six-month outcomes of patients diagnosed with atrial fibrillation in Kenya.

Methods: a retrospective observational cohort study design was employed. Data were obtained from three Kenyan referral hospitals, including public and private institutions. Baseline and six-month data were collected. Depending on the type of variable, data were summarized descriptively.

Results: two hundred forty participants were enrolled, with a median age of 59.0 (IQR: 42.0-75.8). …

Left Bundle Area Pacing Outcomes Among Patients With Very Wide Qrs – Insights From An African Registry, Willy Mucyo, Mzee Ngunga, Miriam Msunza, Jeilan Mohamed, Marcus Ngantcha, Brian Vezi

Internal Medicine, East Africa

Background: Left Bundle Area Pacing (LBAP) is a promising alternative to conventional cardiac resynchronization therapy. There is a high prevalence of dilated cardiomyopathy in Africa, which is often associated with very wide QRS. However, data on LBAP outcomes in Africa are limited. Objective To evaluate the procedural and clinical outcomes of LBAP among African patients with very wide QRS durations.

Methods: The Multicenter African Cardiac Outcomes in Pacing (MACOP) registry enrolled 311 patients in Kenya and South Africa who underwent LBAP between 2021 and 2024. We evaluated procedural and clinical outcomes. Patients were stratified by baseline QRSd (normal …

Preoperative Focused Echocardiography On Patients With Fractured Neck Of Femur. Echonof-Iii Trial: Study Protocol For A Multicenter Randomized Controlled Trial, Ximena Cid-Serra, Alistair Royse, Andrea Bowyer, David Canty, Daniel Sessler, Sandy Clarke-Errey, Andre Denault, Dina Logiudice, Guy Ludbrook, D-Yin Lin, Yang Yang, Kavi Haji, Lisa Zucherrelli, Andrew J Palmer, Benjamin Piper, Thar Nyan Lwin, Stefan Dieleman, David Eccleston, Alwin Chuan, Richard Cooper, Gregory Henderson, Colin Royse

Faculty, Staff and Student Publications

Background: Hip fractures are common in older people and are associated with high perioperative mortality. Prompt surgical intervention within the first 48 h of fraction reduces complications; however, surgical urgency often precludes a comprehensive preoperative cardiac evaluation. Preliminary data suggests that performing a focused cardiac ultrasound (FCU) before surgery may reduce postoperative complications. We therefore propose to test the primary hypothesis that FCU reduces a 30-day composite of mortality and serious complications.

Methods: We plan a definitive multicenter pragmatic randomized trial that will enroll 2000 adults with hip fractures. Participants will be randomized before surgery to either receive FCU as …

Polygenic Prediction Of Body Mass Index And Obesity Through The Life Course And Across Ancestries, Roelof A J Smit, Kaitlin H Wade, Qin Hui, Joshua D Arias, Xianyong Yin, Malene R Christiansen, Loic Yengo, Michael H Preuss, Mariam Nakabuye, Ghislain Rocheleau, Sarah E Graham, Victoria L Buchanan, Geetha Chittoor, Marielisa Graff, Marta Guindo-Martínez, Yingchang Lu, Eirini Marouli, Saori Sakaue, Cassandra N Spracklen, Sailaja Vedantam, Emma P Wilson, Shyh-Huei Chen, Teresa Ferreira, Yingjie Ji, Tugce Karaderi, Kreete Lüll, Moara Machado, Deborah E Malden, Carolina Medina-Gomez, Amy Moore, Sina Rüeger, Masato Akiyama, Matthew A Allison, Marcus Alvarez, Mette K Andersen, Vivek Appadurai, Liubov Arbeeva, Eric Bartell, Seema Bhaskar, Lawrence F Bielak, Joshua C Bis, Sailalitha Bollepalli, Jette Bork-Jensen, Jonathan P Bradfield, Yuki Bradford, Caroline Brandl, Peter S Braund, Jennifer A Brody, Ulrich Broeckel, Kristoffer S Burgdorf, Brian E Cade, Qiuyin Cai, Silvia Camarda, Archie Campbell, Marisa Cañadas-Garre, Jin-Fang Chai, Alessandra Chesi, Seung Hoan Choi, Paraskevi Christofidou, Christian Couture, Gabriel Cuellar-Partida, Rebecca Danning, Frauke Degenhardt, Graciela E Delgado, Alessandro Delitala, Ayşe Demirkan, Xuan Deng, Alexander Dietl, Maria Dimitriou, Latchezar Dimitrov, Rajkumar Dorajoo, Fabian Eichelmann, Anders U Eliasen, Jorgen E Engmann, Michael R Erdos, Zammy Fairhurst-Hunter, Aliki-Eleni Farmaki, Jessica D Faul, Juan-Carlos Fernandez-Lopez, Lukas Forer, Mirjam Frank, Sandra Freitag-Wolf, Lars G Fritsche, Christian Fuchsberger, Tessel E Galesloot, Yan Gao, Frank Geller, Olga Giannakopoulou, Franco Giulianini, Anette P Gjesing, Anuj Goel, Scott D Gordon, Mathias Gorski, Jakob Grove, Xiuqing Guo, Stefan Gustafsson, Jeffrey Haessler, Thomas F Hansen, Aki S Havulinna, Simon J Haworth, Nancy Heard-Costa, Daiane Hemerich, Heather M Highland, George Hindy, Yuk-Lam Ho, Edith Hofer, Elizabeth Holliday, Katrin Horn, Whitney E Hornsby, Jouke-Jan Hottenga, Hongyan Huang, Jie Huang, Alicia Huerta-Chagoya, Shaofeng Huo, Mi Yeong Hwang, Chii-Min Hwu, Hiroyuki Iha, Daisuke D Ikeda, Masato Isono, Anne U Jackson, Iris E Jansen, Yunxuan Jiang, Ingegerd Johansson, Anna Jonsson, Torben Jørgensen, Ioanna P Kalafati, Masahiro Kanai, Stavroula Kanoni, Line L Kårhus, Anuradhani Kasturiratne, Tomohiro Katsuya, Takahisa Kawaguchi, Rachel L Kember, Katherine A Kentistou, Daeeun Kim, Han-Na Kim, Young Jin Kim, Marcus E Kleber, Maria J Knol, Azra Kurbasic, Marie Lauzon, Phuong Le, Rodney Lea, Jong-Young Lee, Wen-Jane Lee, Hampton L Leonard, Hengtong Li, Shengchao A Li, Xiaohui Li, Xiaoyin Li, Jingjing Liang, Honghuang Lin, Kuang Lin, Jun Liu, Xueping Liu, Ken Sin Lo, Jirong Long, Laura Lores-Motta, Jian'an Luan, Valeriya Lyssenko, Leo-Pekka Lyytikäinen, Anubha Mahajan, Md Zubbair Malik, Vasiliki Mamakou, Massimo Mangino, Ani Manichaikul, Jonathan Marten, Manuel Mattheisen, Aaron F Mcdaid, Quanshun Mei, Heike Meiselbach, Tori L Melendez, Yuri Milaneschi, Jason E Miller, Iona Y Millwood, Pashupati P Mishra, Ruth E Mitchell, Line T Møllehave, Nina Mononen, Sören Mucha, Matthias Munz, Juha Mykkänen, Masahiro Nakatochi, Giuseppe Giovanni Nardone, Christopher P Nelson, Maria Nethander, Chu Won Nho, Aneta A Nielsen, Ilja M Nolte, Suraj S Nongmaithem, Raymond Noordam, Ioanna Ntalla, Teresa Nutile, Anita Pandit, Marc Pauper, Eva R B Petersen, Liselotte V Petersen, Francesco Piluso, Ozren Polašek, Alaitz Poveda, Saiju Pyarajan, Laura M Raffield, Hiromi Rakugi, Julia Ramirez, Asif Rasheed, Dennis Raven, Nigel W Rayner, Carlos Riveros, Rebecca Rohde, Daniela Ruggiero, Sanni E Ruotsalainen, Kathleen A Ryan, Maria Sabater-Lleal, Aurora Santin, Richa Saxena, Markus Scholz, Botong Shen, Jingchunzi Shi, Jae Hun Shin, Carlo Sidore, Julia Sidorenko, Xueling Sim, Roderick C Slieker, Albert V Smith, Jennifer A Smith, Laura J Smyth, Lorraine Southam, Valgerdur Steinthorsdottir, Liang Sun, Fumihiko Takeuchi, Kent D Taylor, Bamidele O Tayo, Catherine Tcheandjieu, Natalie Terzikhan, Paola Tesolin, Alexander Teumer, Elizabeth Theusch, Deborah J Thompson, Gudmar Thorleifsson, Paul R H J Timmers, Stella Trompet, Constance Turman, Simona Vaccargiu, Sander W Van Der Laan, Peter J Van Der Most, Jan B Van Klinken, Jessica Van Setten, Shefali S Verma, Niek Verweij, Yogasudha Veturi, Carol A Wang, Chaolong Wang, Jun-Sing Wang, Lihua Wang, Ya Xing Wang, Zhe Wang, Helen R Warren, Wen Bin Wei, Wanqing Wen, William A Wheeler, Ananda R Wickremasinghe, Matthias Wielscher, Bendik S Winsvold, Andrew Wong, Matthias Wuttke, Rui Xia, Ken Yamamoto, Jingyun Yang, Jie Yao, Hannah Young, Noha A Yousri, Lei Yu, Lingyao Zeng, Weihua Zhang, Xinyuan Zhang, Jing-Hua Zhao, Wei Zhao, Wei Zhou, Martina E Zimmermann, Magdalena Zoledziewska, Leen M 'T Hart, Linda S Adair, Hieab H H Adams, Carlos A Aguilar-Salinas, Fahd Al-Mulla, Donna K Arnett, Folkert W Asselbergs, Bjørn Olav Åsvold, John Attia, Bernhard Banas, Stefania Bandinelli, Lawrence J Beilin, David A Bennett, Tobias Bergler, Dwaipayan Bharadwaj, Ginevra Biino, Eric Boerwinkle, Carsten A Böger, Judith B Borja, Claude Bouchard, Donald W Bowden, Ivan Brandslund, Ben Brumpton, Julie E Buring, Mark J Caulfield, John C Chambers, Giriraj R Chandak, Stephen J Chanock, Nish Chaturvedi, Yii-Der Ida Chen, Zhengming Chen, Ching-Yu Cheng, Yoon Shin Cho, Kaare Christensen, Ingrid E Christophersen, Marina Ciullo, John W Cole, Francis S Collins, Maria Pina Concas, Richard S Cooper, Miguel Cruz, Francesco Cucca, Michael J Cutler, Scott M Damrauer, Thomas M Dantoft, Gert J De Borst, Eco J C De Geus, Lisette C P G M De Groot, Philip L De Jager, Dominique P V De Kleijn, H Janaka De Silva, George V Dedoussis, Anneke I Den Hollander, Shufa Du, Douglas F Easton, Kai-Uwe Eckardt, Petra J M Elders, A Heather Eliassen, Patrick T Ellinor, Sölve Elmståhl, Jeanette Erdmann, Michele K Evans, Diane Fatkin, Bjarke Feenstra, Mary F Feitosa, Luigi Ferrucci, Jose C Florez, Ian Ford, Myriam Fornage, Andre Franke, Paul W Franks, Barry I Freedman, Christian Gieger, Giorgia Girotto, Yvonne M Golightly, Clicerio Gonzalez-Villalpando, Penny Gordon-Larsen, Harald Grallert, Struan F A Grant, Niels Grarup, Lyn Griffiths, Vilmundur Gudnason, Christopher Haiman, Hakon Hakonarson, Torben Hansen, Catharina A Hartman, Andrew T Hattersley, Caroline Hayward, Iris M Heid, Chew-Kiat Heng, Christian Hengstenberg, Karl-Heinz Herzig, Alex W Hewitt, Haretsugu Hishigaki, David M Hougaard, Carel B Hoyng, Paul L Huang, Wei Huang, Wen-Yi Huang, Jennifer E Huffman, Steven C Hunt, Nina Hutri, Kristian Hveem, Elina Hyppönen, William G Iacono, Sahoko Ichihara, M Arfan Ikram, Carmen R Isasi, Marjo-Riitta Jarvelin, Zi-Bing Jin, Karl-Heinz Jöckel, Jost B Jonas, Peter K Joshi, Pekka Jousilahti, J Wouter Jukema, Mika Kähönen, Yoichiro Kamatani, Kui Dong Kang, Jaakko Kaprio, Sharon L R Kardia, Fredrik Karpe, Norihiro Kato, Maryam Kavousi, Frank Kee, Thorsten Kessler, Amit V Khera, Chiea Chuen Khor, Lambertus A L M Kiemeney, Bong-Jo Kim, Eung Kweon Kim, Hyung-Lae Kim, Paulus Kirchhof, Mika Kivimaki, Woon-Puay Koh, Heikki A Koistinen, Alexander Kokkinos, Jaspal S Kooner, Charles Kooperberg, Peter Kovacs, Adriaan Kraaijeveld, Peter Kraft, Ronald M Krauss, Meena Kumari, Zoltan Kutalik, Markku Laakso, Leslie A Lange, Claudia Langenberg, Lenore J Launer, Hyejin Lee, Nanette R Lee, Terho Lehtimäki, Rozenn N Lemaitre, Huaixing Li, Liming Li, Wolfgang Lieb, Xu Lin, Lars Lind, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Markus Loeffler, Barry London, Fan Lu, Steven A Lubitz, David A Mackey, Patrik K E Magnusson, Joann E Manson, Gregory M Marcus, Pedro Marques Vidal, Nicholas G Martin, Winfried März, Fumihiko Matsuda, Mark I Mccarthy, Robert W Mcgarrah, Matt Mcgue, Amy Jayne Mcknight, Sarah E Medland, Dan Mellström, Andres Metspalu, Braxton D Mitchell, Paul Mitchell, Dennis O Mook-Kanamori, Trevor A Mori, Andrew D Morris, Lorelei A Mucci, Patricia B Munroe, Mike A Nalls, Saman Nazarian, Amanda E Nelson, Matt J Neville, Christopher Newton-Cheh, Christopher S Nielsen, Harri Niinikoski, Kjell Nikus, Markus M Nöthen, Adesola Ogunniyi, Claes Ohlsson, Albertine J Oldehinkel, Lorena Orozco, Katja Pahkala, Päivi Pajukanta, Colin N A Palmer, Esteban J Parra, Cristian Pattaro, Oluf Pedersen, Craig E Pennell, Brenda W J H Penninx, Louis Perusse, Annette Peters, Patricia A Peyser, David J Porteous, Danielle Posthuma, Chris Power, Peter P Pramstaller, Michael A Province, Bruce M Psaty, Qibin Qi, Jia Qu, Daniel J Rader, Olli T Raitakari, Loukianos S Rallidis, Dabeeru C Rao, Susan Redline, Dermot F Reilly, Alexander P Reiner, Sang Youl Rhee, Paul M Ridker, Michiel Rienstra, Samuli Ripatti, Marylyn D Ritchie, Fernando Rivadeneira, Dan M Roden, Frits R Rosendaal, Jerome I Rotter, Igor Rudan, Femke Rutters, Seungho Ryu, Charumathi Sabanayagam, Babatunde Salako, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Dharambir K Sanghera, Naveed Sattar, Börge Schmidt, Helena Schmidt, Reinhold Schmidt, Matthias B Schulze, Heribert Schunkert, Laura J Scott, Rodney J Scott, Peter Sever, Wayne H H Sheu, M Benjamin Shoemaker, Xiao-Ou Shu, Eleanor M Simonsick, Mario Sims, Andrew B Singleton, Moritz F Sinner, J Gustav Smith, Harold Snieder, Tim D Spector, Beatrice Spedicati, Meir J Stampfer, Klaus J Stark, David P Strachan, Yasuharu Tabara, E Shyong Tai, Hua Tang, Jean-Claude Tardif, Thangavel A Thanaraj, Anke Tönjes, Tiinamaija Tuomi, Jaakko Tuomilehto, Maria-Teresa Tusié-Luna, Rob M Van Dam, Pim Van Der Harst, Nathalie Van Der Velde, Cornelia M Van Duijn, Natasja M Van Schoor, Veronique Vitart, Marie-Claude Vohl, Uwe Völker, Peter Vollenweider, Henry Völzke, Scott Vrieze, Niels H Wacher-Rodarte, Mark Walker, Gurpreet S Wander, Nicholas J Wareham, Richard M Watanabe, Hugh Watkins, David R Weir, Thomas M Werge, Elisabeth Widen, Gonneke Willemsen, Walter C Willett, James F Wilson, Peter W F Wilson, Tien Y Wong, Jeong-Taek Woo, Alan F Wright, Huichun Xu, Chittaranjan S Yajnik, Jian Yang, Mitsuhiro Yokota, Jian-Min Yuan, Eleftheria Zeggini, Babette S Zemel, Wei Zheng, Xiaofeng Zhu, M Carola Zillikens, Alan B Zonderman, John-Anker Zwart, Goncalo R Abecasis, Themistocles L Assimes, Adam Auton, Michael Boehnke, Daniel I Chasman, Tõnu Esko, Kari Stefansson, Guillaume Lettre, Cecilia M Lindgren, Maggie C Y Ng, Christopher J O'Donnell, Unnur Thorsteinsdottir, Peter M Visscher, Robin G Walters, Thomas W Winkler, Andrew R Wood, Panos Deloukas, Timothy M Frayling, Anne E Justice, Tuomas O Kilpeläinen, Adam E Locke, Karen L Mohlke, Kari E North, Yukinori Okada, Cristen J Willer, Kristin L Young, Segun Fatumo, Jeanne M Mccaffery, Nicholas J Timpson, Joel N Hirschhorn, Yan V Sun, Sonja I Berndt, Ruth J F Loos

Faculty, Staff and Student Publications

Polygenic scores (PGSs) for body mass index (BMI) may guide early prevention and targeted treatment of obesity. Using genetic data from up to 5.1 million people (4.6% African ancestry, 14.4% American ancestry, 8.4% East Asian ancestry, 71.1% European ancestry and 1.5% South Asian ancestry) from the GIANT consortium and 23andMe, Inc., we developed ancestry-specific and multi-ancestry PGSs. The multi-ancestry score explained 17.6% of BMI variation among UK Biobank participants of European ancestry. For other populations, this ranged from 16% in East Asian-Americans to 2.2% in rural Ugandans. In the ALSPAC study, children with higher PGSs showed accelerated BMI gain from …

Chest X-Ray Interpretation In The Epico Pediatric Covid-19 Study: Addressing Misconceptions, Luis Miguel Navarro-Ramirez, Pablo Vásquez-Hoyos, María Lucía Mesa-Rubio, Melisa Naranjo Vanegas, Daniela Duarte-Montero, Claudia Burgos, Laura Melissa Mendez, María Margarita Rodriguez, Arianna Martinez, Paola Sanchez, Carolina Tovar, Gabriela Friedrich, Gustavo Adolfo Triana-Rodriguez, Mónica Royero-Arias, Jessica Echeverry, Tamara Gamo, Luz Ángela Moreno, Olga Lucía Baquero, Luz Marina Mejía, Sonia Restrepo-Gualteros, Sergio Moreno-Lopez, Juan Gabriel Piñeros, Carlos Álvarez-Moreno, Alejandro Díaz-Díaz, Iván Felipe Gutierrez, Clara Galvis-Diaz, José Manuel Nieto, Irati Gastesi, Cinta Moraleda, Alfredo Tagarro García, Andrea Ramirez Varela, Epico‐Colombia And Epico‐Aep Working Groups

Faculty, Staff and Student Publications

No abstract provided.

Five-Year Change In Sleep Duration And Incident Alzheimer’S Disease And Related Dementias Among Lower-Income Older Adults, Hui Shi, Loren Lipworth, Qian Xiao, Xijing Han, Michael Mumma, Laura M Keohane, Danxia Yu, Corey J Bolton, Derek B Archer, Timothy J Hohman, Kelsie M Full

Faculty, Staff and Student Publications

Introduction: Little is known about change in sleep duration over time and Alzheimer's Disease and Related Dementias (ADRD) risk.

Methods: ADRD cases were identified among Southern Community Cohort Study participants enrolled in Medicare. Sleep duration was reported at enrollment and first study follow-up and categorized (short (< 7 hours), recommended (7-9) and long (> 9)), change was calculated between timepoints. Adjusted Cox proportional hazards regression was used to estimate hazard ratios (HRs, 95% CIs) for incident ADRD.

Results: We identified 2,093 ADRD cases among 17,945 participants. Compared to maintaining optimal sleep duration (7-9 hours) over 5 years, suboptimal changes were associated with 20-69% greater ADRD risk: adjusted …

Steroid Hormone Biosynthesis And Dietary Related Metabolites Associated With Excessive Daytime Sleepiness, Tariq Faquih, Kaitlin S Potts, Pavithra Nagarajan, Bing Yu, Robert Kaplan, Carmen R Isasi, Qibin Qi, Kent D Taylor, Peter Y Liu, Satu J Strausz, Hanna M Ollila, Tianyi Huang, Russell P Tracy, Craig Johnson, Stephen S Rich, Clary B Clish, Jerome I Rotter, Susan Redline, Tamar Sofer, Heming Wang

Faculty, Staff and Student Publications

Background: Excessive daytime sleepiness (EDS) is a complex sleep problem that affects approximately 33% of the United States population. Although EDS usually occurs in conjunction with insufficient sleep and other sleep and circadian disorders, recent studies have shown unique genetic markers and metabolic pathways underlying EDS. Here, we aimed to further elucidate the biological profile of EDS using large-scale single- and pathway-level metabolomics analyses.

Methods: Metabolomics data were available for 877 metabolites in 6071 individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). EDS was assessed using the Epworth Sleepiness Scale (ESS) questionnaire. We performed linear regression for each …

Precise Mapping Of A Snake Venom Phospholipase A2 Interaction With A Human Nicotinic Acetylcholine Receptor, Ying Jia, Christine Vega, Anthony Hinojosa, Jocelyn Perales

School of Integrative Biological & Chemical Sciences Faculty Publications

The identification of selective molecules that interact with specific human nicotinic acetylcholine receptor (nAChR) subtypes is essential for elucidating their structure and function. Animal venoms, particularly snake venoms, offer a diverse repertoire of bioactive molecules that may selectively bind to human nAChR subtypes. In this study, we cloned transcripts encoding human nAChR subunits and successfully expressed their extracellular domains (ECDs) in yeast cells. We further examined the interactions between nAChR subunits and snake venom toxins, identifying that snake Asp49-phospholipase A2 (Asp49-1) strongly interacts with the human β2 and β4 subunits while exhibiting weaker interactions with α subunits. To delineate the …

Proximity-Dependent Proteomics And Network Analysis Of Adenylyl Cyclase Isoforms 5, 6, And 9 In Cardiomyocytess, Taeyeop Park, Yong Li, Neha Arora, Anibal Garza-Carbajal, Karen Colwill, Cassandra J Wong, Yong Zhou, Carmen W Dessauer

Faculty, Staff and Student Publications

cAMP influences multiple aspects of cardiac biology, including the regulation of contraction, relaxation, and overall stress responses. The functional outcomes of cAMP are driven by the spatial arrangement of enzymes that produce and degrade cAMP (adenylyl cyclase [AC] and phosphodiesterase, respectively), together with the downstream targets of cAMP. We performed proximity-dependent biotin identification (BioID) of near-neighbor interactions proteomics in cardiomyocytes to generate proximity maps for three cardiac AC isoforms. Processing and trafficking functions were the most common gene ontology terms for ACs, with AC5 and AC6 generating unique proximal protein sets compared to AC9. AC5/6 proximal proteins showed significant localization …

Buprenorphine Salivary Gland Accumulation Sustaining High Oral Fluid Exposure And Increasing The Risk Of Streptococcus Mutans Biofilm Formation, Zicong Zheng, Jie Chen, Songpol Srinual, Vesna Tumbas Šaponjac, Taijun Yin, Bing-Yan Wang, Rongjin Sun, Ming Hu

Faculty, Staff and Student Publications

Objectives: The US Food and Drug Administration (FDA) issued a warning about buprenorphine-induced dental caries of unknown mechanism in 2022. To investigate the potential mechanism, the association between local buprenorphine exposure and dental biofilm formation will be explored in this study.

Methods: Female F344 rats were dosed with sublingual buprenorphine film or intravenous injection to explore the oral cavity exposure of the buprenorphine. The buprenorphine distribution in salivary glands after the sublingual and intravenous administration was also evaluated. To investigate the effects of buprenorphine exposure on dental caries formation, buprenorphine's impact on the biofilm formation of S. mutans in vitro …

Women's Unique Health Needs And The Sustainable Development Goals: A Meeting Report From The 79th United Nations General Assembly Science Summit, Irene Aninye, Sarah Chew, Nicole Althaus, Michele Barry, Ru-Fong Cheng, Carolyn Harris, Eleanor Nwadinobi, Beth Battaglino, Aisha Brooks, Marleen Temmerman

Centre of Excellence in Women and Child Health

Biological sex, hormones, and gender uniquely affect health and disease, often resulting in disparities for women across the lifespan and from different racial and ethnic groups, geographical locations, and socio economic backgrounds. Without intentional investment and infrastructure to support good health and wellbeing for women,half of the world’s population remains vulnerable to preventable morbidity and mortality. The Society for Women’s Health Research and ECHAlliance–The Global Health Connector convened a women’s health programas part of the 10th Annual Science Summit during the United Nations 79th General Assembly. This hybrid event was held in New York, NY, (USA) and virtually in September …

Strategies And Considerations For Forming And Managing Community Advisory Boards From Health Research With Transgender And Nonbinary Communities, Mannat Malik, Anushka Aqil, Jennifer L. Glick, Jean Michel Brevelle, Anthony Black, Kellan Baker, Arjee Restar, Molly Gribbin, Colin Flynn, Danielle German

School of Public Health Faculty Publications

Purpose: There is limited research on the use of community advisory boards (CABs) in health research with transgender and nonbinary communities. Transgender communities are navigating challenging histories of health researcher exploitation and research distrust alongside exponential research growth. We explored strategies for forming and managing CABs when conducting transgender community-informed health research. Methods: We used purposive and snowball sampling to identify key informants (KIs): research leaders, implementing staff, and community partners engaging in transgender health research. Between October 2018 and December 2020, we conducted 30 semi-structured in-depth interviews. We used coding followed byiterative thematic analysis and memoing to identify themes. …

Policy Evaluation With Nonlinear Trended Outcomes: Covid-19 Vaccination Rates In The United States, Lynn Bergeland Morgan, Peter C. B. Phillips, Donggyu Sul

Research Collection School Of Economics

This paper discusses pitfalls in two way fixed effects (TWFE) regressions when the outcome variables contain nonlinear and possibly stochastic trend components. If a policy change shifts trend paths of outcome variables, TWFE estimation can distort results and invalidate inference, especially in a context of evolving policy decisions. A robust solution is proposed by allowing for dynamic club membership empirically using a relative convergence test procedure. The determinants of respective club memberships are assessed by panel ordered logit regressions. The approach allows for policy evolution and shifts in outcomes according to a convergence cluster framework with transitions over time and …

Reliability And Spatial Consistency Of Mr Diffusion Tensor Imaging Measures Along The Cerebral Perivascular Space, Enchao Qiu, Joga Chaganti, Phillip Phan, M. Alizadeh, Devon Middleton, Kiran Talekar, Prabath Mondel, Scott H. Faro, Feroze Mohamed, Hsiangkuo Yuan

Department of Radiology Faculty Papers

BACKGROUND AND PURPOSE: Diffusion tensor imaging analysis along the perivascular space (DTI-ALPS) has emerged as a promising noninvasive method for evaluating water motion that may reflect glymphatic system function. However, the reliability of DTI-ALPS measurements across different region-of-interest (ROI) selection methods remains underinvestigated. This study aimed to assess the interrater reliability among three neuroradiologists in native space and compare DTI-ALPS indices derived from ROIs placed in subjects' native space versus standardized Montreal Neurological Institute (MNI) space.

METHODS: DTI-ALPS indices from 16 healthy subjects were calculated from both left and right hemispheres using two ROI placement approaches: (1) native space ROIs …

Enhancing Preparedness: A Genetic Study Of Sar-Cov-2 And Other Microbial Public Health Threats In Wastewater From A College Town, Christian N. Hutchinson

Master's Theses

Problem

The SARS-CoV-2 (COVID-19) pandemic revealed both the systemic vulnerabilities of our healthcare system as well as the importance of timely, localized data for informing public health responses. Traditional testing approaches were essential but often failed to capture the full extent of viral spread, especially in those with mild or asymptomatic conditions that relied on at home testing. This underreporting hindered effective allocation of resources and made developing effective intervention strategies difficult. We also realized the potential for wastewater surveillance to be applied to tracking antimicrobial resistance gene markers. Taken together, this approach should have important implications for improving public …

End User Experiences Of An Electronic Health Records Platform In A Tertiary Hospital System In Kenya, Anmol Shrestha, Jasmit Shah, Zamanali Khakhar, Armando Ruiz, Zohray Talib, Sayed Karar

Internal Medicine, East Africa

Background: Electronic Health Record (EHR) systems allow health care facilities to provide better care to patients and improve overall provider efficiency. They are vital for low-and middle-income countries in achieving the United Nations Sustainable Development Goal of ensuring healthy lives and promoting the well-being of all their citizens. This study aimed to evaluate perceptions and usage of a comprehensive EHR by end-users after its deployment into a tertiary hospital system and its outpatient centers in Kenya and also aimed to understand the effectiveness of various implementation strategies deployed by the institution during their implementation process.

Methods: We conducted …

Curing The Peasant's Disease : Frank Oldt’S Work And Research On Hookworm Disease In South China, 1905-1926, Jiaying Fu

Lingnan Theses (MPhil & PhD)

While current scholarship on “hygienic modernity” in China focuses on the construction of urban health systems and institutional infrastructures, this study proposes an alternative analytical lens by foregrounding the domain of agricultural health. It aims to investigate how early twentieth-century medical researchers uncovered public health models grounded in China’s agrarian conditions. Taking the case of Frank Oldt (1879–1976), a medical missionary living in Guangdong between 1905 and 1926, this research examines how he identified, interpreted, and sought to mitigate the problem of hookworm disease—a parasitic condition intricately linked to China’s farming practices and rural environmental conditions.

Specifically, this thesis aims …

Healthcare Informatics September 2025, Aga Khan University

Department of Chief Medical Information Officer (CMIO) Archives

This issue of the Healthcare Informatics Newsletter provides key updates on the ongoing AKU OneHealth Electronic Health Record (EHR) build and usability phase. It highlights clinical engagement across nursing, anesthesia, pediatrics, OBGYN, oncology, and emergency medicine, as well as progress in analytics, KPIs, and departmental integration. The newsletter also shares insights from leadership messages, usability milestones, academic contributions, and upcoming events.

Optimal And Harmful Social Media Use By Teens With Disabilities: Leveraging Benefits While Minimizing Adverse Effects, Rommel Johnson, Elaine Mora

School of Rehabilitation Services & Counseling Faculty Publications

This article investigates the dual role of social media as both a beneficial and a harmful tool for teens with disabilities (TWDs), emphasizing its impact on identity formation, self-expression, and community engagement. Social media platforms provide TWDs with opportunities for autonomy and empowerment, offering an avenue to connect with peers, share personal stories, and engage in self-advocacy. However, the same platforms pose significant risks, including cyberbullying, loss of privacy, and problematic social media use. The article highlights rehabilitation professionals' need to understand these underlying forces, ensuring that TWDs can leverage social media's benefits while minimizing its adverse effects. By reviewing …

Knowledge, Attitude And Practice Of Artificial Intelligence Among Healthcare Professionals: An Online Cross-Sectional Survey, Nikhil R, Divya K L, Mahabaleshwar Mamadapur, Harshwardhan S Patil, Shashirekha B, Hema Sameera Pinnam, Purna Bansal

Digital Journal of Clinical Medicine

Background: Deep learning-powered Artificial Intelligence-driven assistance offers enormous potential to improve healthcare by facilitating administrative work, diagnosis, and the treatment of chronic diseases. The gap between clinical values and the day-to-day realities of primary care practice might widen if AI is not successfully incorporated.

Methods: A cross-sectional design was used to evaluate healthcare professionals' perceptions and understanding of AI within a clinical setting. The study was conducted among 456 Health care Workers from May to November 2024.

Results: Among 456 participants, 55.7% were MBBS students/interns, and 37.9% were postgraduates/professionals. More than 50% supported AI integration, and 62.3% of MBBS …

Cardiogenic Shock With Acute Myocardial Infarction Among Older Adults In The United States, Taha Mansoor, Ali Bin Jabbar, Mahmoud Ismayl, Dylan Yu, Kartik Gupta, Sachin Parikh, Austin Brubaker, Abdul Minhas, Dmitry Abramov, Salim S. Virani

Population Health, East Africa

Background: Characteristics and outcomes associated with cardiogenic shock (CS) with acute myocardial infarction (AMI) in older patients have not been well characterized.

Objectives: The purpose of this study was to investigate characteristics and outcomes of older patients admitted with CS with AMI.

Methods: We used the National Inpatient Sample database to evaluate clinical characteristics of hospitalizations, clinical outcomes, and health care utilization of hospitalizations of older patients ≥80 years with CS and AMI from 2003 to 2021. We also compared data from older patients with a reference relatively younger patient population (18-79 years).

Results: During the study period, …

Induction Of An Early Ifn-Γ Cellular Response And High Plasma Levels Of Sdf-1Α Are Inversely Associated With Covid-19 Severity And Residence In Rural Areas In Kenyan Patients, Perpetual Wanjiku, Benedict Orindi, John Kimotho, Shahin Sayed, Reena Shah, Mansoor Saleh, Viviane Olouch, Ann Karanu, Jasmit Shah, Zaitun Nneka

Pathology, East Africa

Introduction COVID-19 was less severe in Sub-Saharan Africa (SSA) compared with Europe and North America. It is unclear whether these differences could be explained immunologically. Here we determined levels of ex vivo SARS-CoV-2 peptide-specific IFN-γ producing cells, and plasma cytokines and chemokines over the first month of COVID-19 diagnosis among Kenyan COVID-19 patients from urban and rural areas.

Methods Between June 2020 and August 2022, we recruited and longitudinally monitored 188 COVID-19 patients from two regions in Kenya, Nairobi (urban, n=152) and Kilifi (rural, n=36), with varying disease severity – severe, mild/moderate, and asymptomatic. IFN-γ secreting cells were enumerated at …

Mechanisms Underlying Treatment-Resistant Depression: Exploring Sex-Based Biological Differences, Francisco E R Da Silva, Atakan Yucel, Antonio P M Menezes, Ana C Ruiz, Marcela C Carbajal Tamez, Tatiana Barichello, Giselli Scaini, Joao Quevedo

Faculty, Staff and Student Publications

Treatment-resistant depression (TRD) represents a severe and complex subtype of major depressive disorder (MDD), affecting approximately 30% of patients who fail to respond adequately to multiple standard antidepressant therapies. While the pathophysiology of TRD remains incompletely understood, emerging evidence suggests that sex-based biological differences might influence its onset, progression, and treatment response. Women are disproportionately affected by depression and are more likely to experience residual symptoms and treatment resistance, potentially due to hormonal fluctuations, immune system differences, and variations in brain circuitry and neuroplasticity. This narrative explores the current literature on the mechanisms underlying TRD, with a particular emphasis on …

Variational Temporal Deconfounder Network For Individualized Treatment Effect Estimation With Longitudinal Observational Data, Hao Dai, Yu Huang, Yuxi Liu, Xing He, Jingchuan Guo, Mattia Prosperi, Jiang Bian

Faculty, Staff and Student Publications

Objective: By leveraging real-world electronic health record (EHR) data, this study set out to estimate individualized treatment effects (ITE) in longitudinal observational settings to advance personalized medicine, addressing key challenges that are often observed in real-world clinical scenarios and pose statistical challenges, including hidden confounding and dynamic treatment regimens.

Methods: We propose the Variational Temporal Deconfounder Network (VTDNet), a novel framework designed to account for time-varying hidden confounding using a variational recurrent transformer-based autoencoder. Specifically, VTDNet comprises three critical components: a temporal Encoder-Decoder structure to capture hidden representation, a Treatment Block that captures interdependencies among multiple treatments, and a Potential …

Sex Differences In The Treatment With Pcsk9 Monoclonal Antibodies- Real World Experience From A Dedicated Preventive Cardiology Clinic, Lital Hodeda, Alon Eisen, Aviad Rotholz, Ran Kornowski, Chen Gurevitz

Faculty, Staff and Student Publications

Purpose: Proprotein convertase subtilisin/kexin type 9 monoclonal antibodies (PCSK9 mAb) lower low-density lipoprotein cholesterol (LDL-C) levels and reduce atherosclerotic cardiovascular disease (ASCVD). Data regarding sex differences in PCSK9 mAb treatment remain lacking. This study examines sex differences in patients' characteristics, indications, efficacy, and safety of PCSK9 mAb treatment.

Methods: Retrospective study based on data from the Preventive Cardiology and Lipids Clinic in Rabin Medical Center on patients prescribed with PCSK9 mAb. Collected data included medical background, medications, indications and laboratory data, analyzed by sex.

Results: 246 patients were included (mean age 67y, ASCVD 78.8 %, mean baseline LDL-C 128.2 mg/dL). …

Role Of Exchange Proteins Directly Activated By Camp Signaling In Vascular Remodeling, Xiaodong Cheng, Hua Liu, Wenbo Zhang, Wenli Yang, Fang Mei

Faculty, Staff and Student Publications

Vascular remodeling is a complex process involving the coordinated actions of multiple cellular signaling pathways in various cell types, leading to structural and functional changes in blood vessels. These changes can be adaptive, as in wound healing, or maladaptive, as seen in chronic vascular diseases such as atherosclerosis, hypertension, and retinopathy. Exchange proteins directly activated by cAMP (EPACs) are key players in cAMP-mediated cell signaling, distinct from the more traditionally studied protein kinase A pathway. EPAC proteins are guanine nucleotide exchange factors for the small G proteins Rap1 and Rap2. Recent studies have also revealed noncanonical functions of EPAC1 involving …

Immune Impacts Of Fire Smoke Exposure, Mary M Johnson, Abhinav Kaushik, Olivia A Kline, Eric M Smith, Xiaoying Zhou, Yagiz Pat, Laura Buergi, Juan Aguilera, Shifaa Alkotob, Elisabeth M Simonin, Alberto Favaro, Miguel Couto, Oscar Bennett, R Sharon Chinthrajah, Ella Parsons, Mohamed Shamji, Marshall Burke, Melissa Bondy, Mubeccel Akdis, Cezmi A Akdis, Kari C Nadeau

Faculty, Staff and Student Publications

Fire smoke exposure has become a global health concern and is associated with increased morbidity and mortality. There is a lack of understanding of the specific immune mechanisms involved in smoke exposure with preventative and targeted interventions needed. After exposure to fire smoke, which includes PM2.5, toxic metals and per- and polyfluoroalkyl substances (PFAS), epidemiology-based studies demonstrate increases in respiratory (e.g. asthma exacerbations), cardiac (e.g. myocardial infarctions, arrhythmias), neurologic (e.g. stroke) and pregnancy-related (e.g. low birthweight, premature births) outcomes. However, mechanistic studies exploring how smoke exposure disrupts cellular homeostasis are lacking. Therefore, we collected blood from smoke-exposed individuals (n …

Outcomes In Systemic Sclerosis-Associated Interstitial Lung Disease Based On Serological Profiles With A Focus On Anticentromere And Anti-Rna Polymerase Iii Antibodies, Elizabeth R Volkmann, Shervin Assassi, Christopher P Denton, Rozeta Simonovska, Steven Sambevski, Margarida Alves, Elana J Bernstein

Faculty, Staff and Student Publications

Objective: We aimed to compare the progression of systemic sclerosis-associated interstitial lung disease (SSc-ILD) based on serological status.

Methods: In a posthoc analysis of the SENSCIS trial (nintedanib vs placebo in SSc-ILD; ClinicalTrials.gov: NCT02597933), we analyzed the rate of decline in forced vital capacity (FVC) over 52 weeks in 3 subsets: (1) positive for anticentromere antibody (ACA), (2) positive for anti-RNA polymerase III antibody (ARA), and (3) negative for ACA, ARA, and antitopoisomerase I antibody (ATA).

Results: Among study participants who underwent baseline serological evaluation, 32/549 (5.8%) were ACA positive, 98/528 (18.6%) were ARA positive, and 127/526 (24.1%) were …