Review
Genetics & Heredity
Zhen Zhou, Alana C. Cecchi, Siddharth K. Prakash, Dianna M. Milewicz
Summary: This article discusses the main risk factors associated with thoracic aortic aneurysms and dissections (TAD), including genetic variants and environmental conditions, and explores the underlying mechanisms leading to TAD.
Article
Genetics & Heredity
Juan J. Velasco, Yupeng Li, Bulat A. Ziganshin, Mohammad A. Zafar, John A. Rizzo, Deqiong Ma, Hui Zang, Asanish Kalyanasundaram, John A. Elefteriades
Summary: The KIF6 gene's 719Arg variant is strongly associated with an increased risk of aortic dissection in patients with thoracic aortic aneurysms. These findings have potential implications for predicting and managing aortic dissection, providing a valuable non-size criterion in surgical decision making.
Review
Cardiac & Cardiovascular Systems
Daniela Crousillat, Joan Briller, Niti Aggarwal, Leslie Cho, Thais Coutinho, Colleen Harrington, Eric Isselbacher, Kathryn Lindley, Maral Ouzounian, Ourania Preventza, Jyoti Sharma, Ranya Sweis, Melissa Russo, Nandita Scott, Nupoor Narula
Summary: Despite being more common in men, women with thoracic aortic aneurysm and dissection (TAAD) receive lower rates of treatment and surgical intervention, leading to worse outcomes. Additionally, an increasing number of women with TAAD desire pregnancy, which poses an increased risk of aortic complications. Understanding the sex-specific differences in TAAD holds the potential to enhance care delivery, reduce treatment disparities, and optimize outcomes for women with TAAD.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Engineering, Biomedical
Zhenfeng Li, Tao Luo, Shuo Wang, Heyue Jia, Qi Gong, Xiaoping Liu, Michael P. F. Sutcliffe, Haijing Zhu, Qian Liu, Duanduan Chen, Jiang Xiong, Zhongzhao Teng
Summary: This study investigated the association between the macroscopic mechanical response of aortic dissection (AoD) flap, its fibre features, and patient physiological features and clinical presentations. The study found that fibre dispersion and waviness in the aortic dissection flap changed with patient age and clinical presentations. The elastin and collagen area percentages were positively correlated with material constants, while the elastin and collagen waviness were negatively correlated with material constants. The study also found that D2 was an effective parameter to differentiate patient groups with different age and clinical presentations.
ACTA BIOMATERIALIA
(2022)
Article
Biochemistry & Molecular Biology
David Sanchez-Infantes, Meritxell Nus, Miquel Navas-Madronal, Joan Fite, Belen Perez, Antonio J. Barros-Membrilla, Begona Soto, Jose Martinez-Gonzalez, Mercedes Camacho, Cristina Rodriguez, Ziad Mallat, Maria Galan
Summary: The study found extensive inflammatory infiltration in the aneurysmal wall, mainly composed of T cells, macrophages, and B cells, and altered levels of ROS, IgM, IgG, CD38, GDF15, S100A4, and CD36 in the plasma and aneurysmal tissue of AAA patients compared to controls. Circulating levels of IgG, CD38, and GDF15 were positively correlated with abdominal aortic diameter, and CD38 was correlated with PWS.
Article
Cardiac & Cardiovascular Systems
Angela Lopez-Sainz, Laia Mila, Jose Rodriguez-Palomares, Javier Limeres, Chiara Granato, Lucia La Mura, Ana Sabate, Andrea Guala, Laura Gutierrez, Laura Galian-Gay, Augusto Sao-Aviles, Sergi Bellmunt, Rafael Rodriguez, Hug Cuellar-Calabria, Albert Roque, Ignacio Ferreira-Gonzalez, Artur Evangelista, Gisela Teixido-Tura
Summary: This study revealed that aortic branch aneurysms are present in approximately one-quarter of patients with MFS, are associated with patient age and aortic dilation, and independently predict the need for aortic surgery.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Medicine, General & Internal
Nerea Lopez Perez, Philippe Reymond, Mustafa Cikirikcioglu, Mathieu van Steenberghe, Tornike Sologashvili, Nicolas Murith, Thomas Perneger, Christoph Huber
Summary: This study examines the ratio between ascending and descending aorta diameters as a potential surrogate marker for decision making in cases of ascending aortic dilatation. A retrospective observational cohort study was conducted on 50 patients who underwent surgery for acute type A aorta dissection. The results suggest that the ratio between descending and ascending aorta diameters may be a useful tool for stratifying the risk of dissection.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Shao-Wei Chen, Yi-Hsin Chan, Victor Chien-Chia Wu, Yu-Ting Cheng, Dong-Yi Chen, Chia-Pin Lin, Kuo-Chun Hung, Shang-Hung Chang, Pao-Hsien Chu, An-Hsun Chou
Summary: The use of fluoroquinolones in patients with aortic dissection or aneurysm is associated with a higher risk of adverse outcomes compared to amoxicillin.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Antonio Tejera-Munoz, Isabel Rodriguez, Alvaro Del Rio-Garcia, Yamina Mohamedi, Maria Martin, Valentina Chiminazzo, Beatriz Suarez-Alvarez, Carlos Lopez-Larrea, Marta Ruiz-Ortega, Raul R. Rodrigues-Diez
Summary: The study found an association between the C allele of rs12526196 in the CCN2 gene and the presence of thoracic aortic aneurysm (TAA), suggesting a potential protective role of CCN2 in TAA development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Christopher Lau, Giovanni Soletti, Jonathan W. Weinsaft, Mohamed Rahouma, Talal Al Zghari, Roberto Perezgrovas Olaria, Lamia Harik, Mohammad Yaghmour, Arnaldo Dimagli, Mario Gaudino, Leonard N. Girardi
Summary: This study compared operative and long-term outcomes between patients with and without Marfan syndrome undergoing thoracoabdominal aortic aneurysm repair. The study found that patients with and without Marfan syndrome had similar operative outcomes despite differing risk profiles.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
Shye-Jao Wu, Ya-Fen Fan, Yu-Chu Tsai, Shen Sun, Chen-Yen Chien, Jiun-Yi Li
Summary: This study investigates the surgical outcomes of non-prompt aortic surgery for acute type A aortic dissection (ATAAD) patients. The results show that urgent but non-prompt aortic surgery could provide acceptable surgical results for ATAAD patients without preoperative shock and malperfusion who did not seek medical attention or who could not make their minds to undergo surgery immediately after symptom onset, as long as they are hospitalized with intensive care.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Medicine, Research & Experimental
Changshun He, Bo Jiang, Mo Wang, Pengwei Ren, Sae-Il Murtada, Alexander W. Caulk, Guangxin Li, Lingfeng Qin, Roland Assi, Constantinos J. Lovoulos, Martin A. Schwartz, Jay D. Humphrey, George Tellides
Summary: This study investigates the role of mTOR signaling in aortic disease. The activation of mTOR in vascular wall cells determines whether aortic tears progress to dissection or rupture. Inhibition of mTOR signaling prevents aortic rupture but promotes dissection. Thus, caution should be exercised when exploring mTOR inhibition for aortic disease.
Review
Cardiac & Cardiovascular Systems
Bartosz Rylski, Oliver Schilling, Martin Czerny
Summary: Remarkable progress has been made in aortic medicine in recent decades, leading to significant changes in the understanding and treatment of thoracic aortic dissection. This state-of-the-art review article explores the mechanisms of acute aortic dissection, the impact of its entry location and dissection extension on clinical presentation and treatment decisions, and presents the latest evidence on novel treatment methods and discussions on dissection classification. Future aspects of treating acute aortic dissection are also discussed.
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Alice Le Huu, Ourania Preventza
Summary: Approximately one-third of patients with acute Stanford type B or DeBakey type III aortic dissection will develop complications necessitating endovascular intervention to stabilize the condition. The immediate goal of endovascular therapy is to restore flow to the true lumen and stabilize the aneurysm, while the long-term goal is to remodel the descending thoracic aorta and prevent further surgeries.
ANNALS OF CARDIOTHORACIC SURGERY
(2021)
Review
Biochemistry & Molecular Biology
Pratik Rai, Lucy Robinson, Hannah A. Davies, Riaz Akhtar, Mark Field, Jillian Madine
Summary: This review investigates the presence, distribution, and role of PGs and GAGs in the aorta and their association with TAAD. Despite contradictory findings on changes in GAGs with aging, it is apparent that PGs and GAGs play an important role in maintaining the extracellular matrix of the aortic wall and show differences in association with TAAD. Further investigation is needed to establish a cause-effect relationship and understand the underlying mechanisms. The increased presence of PGs in serum associated with aortic disease suggests the potential use of these biomarkers for diagnosis or prognosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Obstetrics & Gynecology
Matthew E. Spotnitz, Karthik Natarajan, Patrick B. Ryan, Carolyn L. Westhoff
OBSTETRICS AND GYNECOLOGY
(2020)
Article
Multidisciplinary Sciences
Edward Burn, Seng Chan You, Anthony G. Sena, Kristin Kostka, Hamed Abedtash, Maria Tereza F. Abrahao, Amanda Alberga, Heba Alghoul, Osaid Alser, Thamir M. Alshammari, Maria Aragon, Carlos Areia, Juan M. Banda, Jaehyeong Cho, Aedin C. Culhane, Alexander Davydov, Frank J. DeFalco, Talita Duarte-Salles, Scott DuVall, Thomas Falconer, Sergio Fernandez-Bertolin, Weihua Gao, Asieh Golozar, Jill Hardin, George Hripcsak, Vojtech Huser, Hokyun Jeon, Yonghua Jing, Chi Young Jung, Benjamin Skov Kaas-Hansen, Denys Kaduk, Seamus Kent, Yeesuk Kim, Spyros Kolovos, Jennifer C. E. Lane, Hyejin Lee, Kristine E. Lynch, Rupa Makadia, Michael E. Matheny, Paras P. Mehta, Daniel R. Morales, Karthik Natarajan, Fredrik Nyberg, Anna Ostropolets, Rae Woong Park, Jimyung Park, Jose D. Posada, Albert Prats-Uribe, Gowtham Rao, Christian Reich, Yeunsook Rho, Peter Rijnbeek, Lisa M. Schilling, Martijn Schuemie, Nigam H. Shah, Azza Shoaibi, Seokyoung Song, Matthew Spotnitz, Marc A. Suchard, Joel N. Swerdel, David Vizcaya, Salvatore Volpe, Haini Wen, Andrew E. Williams, Belay B. Yimer, Lin Zhang, Oleg Zhuk, Daniel Prieto-Alhambra, Patrick Ryan
NATURE COMMUNICATIONS
(2020)
Article
Rheumatology
Jennifer C. E. Lane, James Weaver, Kristin Kostka, Talita Duarte-Salles, Maria Tereza F. Abrahao, Heba Alghoul, Osaid Alser, Thamir M. Alshammari, Carlos Areia, Patricia Biedermann, Juan M. Banda, Edward Burn, Paula Casajust, Kristina Fister, Jill Hardin, Laura Hester, George Hripcsak, Benjamin Skov Kaas-Hansen, Sajan Khosla, Spyros Kolovos, Kristine E. Lynch, Rupa Makadia, Paras P. Mehta, Daniel R. Morales, Henry Morgan-Stewart, Mees Mosseveld, Danielle Newby, Fredrik Nyberg, Anna Ostropolets, Rae Woong Park, Albert Prats-Uribe, Gowtham A. Rao, Christian Reich, Peter Rijnbeek, Anthony G. Sena, Azza Shoaibi, Matthew Spotnitz, Vignesh Subbian, Marc A. Suchard, David Vizcaya, Haini Wen, Marcel de Wilde, Junqing Xie, Seng Chan You, Lin Zhang, Simon Lovestone, Patrick Ryan, Daniel Prieto-Alhambra
Summary: This study found that the use of hydroxychloroquine to treat rheumatoid arthritis does not appear to increase the risk of depression, suicide/suicidal ideation, or psychosis compared to sulfasalazine. No consistent short-term or long-term effects were observed. Further investigation is needed for higher doses or different indications of use.
Article
Rheumatology
Eng Hooi Tan, Anthony G. Sena, Albert Prats-Uribe, Seng Chan You, Waheed-Ul-Rahman Ahmed, Kristin Kostka, Christian Reich, Scott L. Duvall, Kristine E. Lynch, Michael E. Matheny, Talita Duarte-Salles, Sergio Fernandez Bertolin, George Hripcsak, Karthik Natarajan, Thomas Falconer, Matthew Spotnitz, Anna Ostropolets, Clair Blacketer, Thamir M. Alshammari, Heba Alghoul, Osaid Alser, Jennifer C. E. Lane, Dalia M. Dawoud, Karishma Shah, Yue Yang, Lin Zhang, Carlos Areia, Asieh Golozar, Martina Recalde, Paula Casajust, Jitendra Jonnagaddala, Vignesh Subbian, David Vizcaya, Lana Y. H. Lai, Fredrik Nyberg, Daniel R. Morales, Jose D. Posada, Nigam H. Shah, Mengchun Gong, Arani Vivekanantham, Aaron Abend, Evan P. Minty, Marc Suchard, Peter Rijnbeek, Patrick B. Ryan, Daniel Prieto-Alhambra
Summary: In patients with prevalent autoimmune diseases, COVID-19 results in more complications and higher mortality rates compared to influenza, highlighting the severity of the disease.
Article
Medical Informatics
Jenna M. Reps, Chungsoo Kim, Ross D. Williams, Aniek F. Markus, Cynthia Yang, Talita Duarte-Salles, Thomas Falconer, Jitendra Jonnagaddala, Andrew Williams, Sergio Fernandez-Bertolin, Scott L. DuVall, Kristin Kostka, Gowtham Rao, Azza Shoaibi, Anna Ostropolets, Matthew E. Spotnitz, Lin Zhang, Paula Casajust, Ewout W. Steyerberg, Fredrik Nyberg, Benjamin Skov Kaas-Hansen, Young Hwa Choi, Daniel Morales, Siaw-Teng Liaw, Maria Tereza Fernandes Abrahao, Carlos Areia, Michael E. Matheny, Kristine E. Lynch, Maria Aragon, Rae Woong Park, George Hripcsak, Christian G. Reich, Marc A. Suchard, Seng Chan You, Patrick B. Ryan, Daniel Prieto-Alhambra, Peter R. Rijnbeek
Summary: The external validation of the C-19 index across various healthcare settings showed low discriminatory performance in influenza cohorts and even worse among COVID-19 patients in the United States, Spain, and South Korea. These findings indicate that the C-19 index should not be used for decision-making during the COVID-19 pandemic, emphasizing the importance of extensive validation in different populations for trust in a prediction model.
JMIR MEDICAL INFORMATICS
(2021)
Article
Health Care Sciences & Services
Ross D. Williams, Aniek F. Markus, Cynthia Yang, Talita Duarte-Salles, Scott L. DuVall, Thomas Falconer, Jitendra Jonnagaddala, Chungsoo Kim, Yeunsook Rho, Andrew E. Williams, Amanda Alberga Machado, Min Ho An, Maria Aragon, Carlos Areia, Edward Burn, Young Hwa Choi, Iannis Drakos, Maria Tereza Fernandes Abrahao, Sergio Fernandez-Bertolin, George Hripcsak, Benjamin Skov Kaas-Hansen, Prasanna L. Kandukuri, Jan A. Kors, Kristin Kostka, Siaw-Teng Liaw, Kristine E. Lynch, Gerardo Machnicki, Michael E. Matheny, Daniel Morales, Fredrik Nyberg, Rae Woong Park, Albert Prats-Uribe, Nicole Pratt, Gowtham Rao, Christian G. Reich, Marcela Rivera, Tom Seinen, Azza Shoaibi, Matthew E. Spotnitz, Ewout W. Steyerberg, Marc A. Suchard, Seng Chan You, Lin Zhang, Lili Zhou, Patrick B. Ryan, Daniel Prieto-Alhambra, Jenna M. Reps, Peter R. Rijnbeek
Summary: This study investigated the possibility of using influenza data to develop prediction models for COVID-19 in order to speed up the development and validation of reliable prediction models in the early stages of a pandemic. The researchers developed COVID-19 Estimated Risk (COVER) scores based on historical data from patients with influenza or flu-like symptoms, and tested them on COVID-19 patients. The results showed that the COVER scores performed well in predicting the risk of hospital admission, intensive services, and fatality in COVID-19 patients. However, there were some calibration issues in the COVID-19 validations, possibly due to differences in symptom severity between the two diseases. Recalibrating the models in each location before use could be a possible solution.
BMC MEDICAL RESEARCH METHODOLOGY
(2022)
Article
Psychiatry
Anastasiya Nestsiarovich, Jenna M. Reps, Michael E. Matheny, Scott L. DuVall, Kristine E. Lynch, Maura Beaton, Xinzhuo Jiang, Matthew Spotnitz, Stephen R. Pfohl, Nigam H. Shah, Carmen Olga Torre, Christian G. Reich, Dong Yun Lee, Sang Joon Son, Seng Chan You, Rae Woong Park, Patrick B. Ryan, Christophe G. Lambert
Summary: The study aimed to build and validate a predictive model for MDD to BD conversion, identifying nine risk factors through analysis of multiple international patient databases, and developing an effective prediction algorithm that distinguishes up to 100-fold risk differences among patients.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Behavioral Sciences
Matthew Spotnitz, Anna Ostropolets, Victor G. Castano, Karthik Natarajan, Genna J. Waldman, Michael Argenziano, Ruth Ottman, George Hripcsak, Hyunmi Choi, Brett E. Youngerman
Summary: This study demonstrated the feasibility of characterizing adult patients with epilepsy and antiseizure medication treatment pathways using the OHDSI Common Data Model. The results revealed significant variability in antiseizure medication use in practice, especially in second-line and subsequent agents, showing marked heterogeneity.
EPILEPSY & BEHAVIOR
(2022)
Article
Public, Environmental & Occupational Health
Daniel Prieto-Alhambra, Kristin Kostka, Talita Duarte-Salles, Albert Prats-Uribe, Anthony Sena, Andrea Pistillo, Sara Khalid, Lana Lai, Asieh Golozar, Thamir M. Alshammari, Dalia Dawoud, Fredrik Nyberg, Adam Wilcox, Alan Andryc, Andrew Williams, Anna Ostropolets, Carlos Areia, Chi Young Jung, Christopher Harle, Christian Reich, Clair Blacketer, Daniel Morales, David A. Dorr, Edward Burn, Elena Roel, Eng Hooi Tan, Evan Minty, Frank DeFalco, Gabriel de Maeztu, Gigi Lipori, Heba Alghoul, Hong Zhu, Jason Thomas, Jiang Bian, Jimyung Park, Jordi Martinez Roldan, Jose Posada, Juan M. Banda, Juan P. Horcajada, Julianna Kohler, Karishma Shah, Karthik Natarajan, Kristine Lynch, Li Liu, Lisa Schilling, Martina Recalde, Matthew Spotnitz, Mengchun Gong, Michael Matheny, Neus Valveny, Nicole Weiskopf, Nigam Shah, Osaid Alser, Paula Casajust, Rae Woong Park, Robert Schuff, Sarah Seager, Scott DuVall, Seng Chan You, Seokyoung Song, Sergio Fernandez-Bertolin, Stephen Fortin, Tanja Magoc, Thomas Falconer, Vignesh Subbian, Vojtech Huser, Waheed-Ul-Rahman Ahmed, William Carter, Yin Guan, Yankuic Galvan, Xing He, Peter Rijnbeek, George Hripcsak, Patrick Ryan, Marc Suchard, Daniel Prieto-Alhambra
Summary: This study utilizes the Observational Health Data Sciences and Informatics (OHDSI) framework to standardize and analyze real-world data on COVID-19. The findings reveal global variations in comorbidities, symptoms, and clinical presentations among patients. The study provides a global, multi-center perspective on the progression, management, and evolution of COVID-19.
CLINICAL EPIDEMIOLOGY
(2022)
Article
Genetics & Heredity
Cong Liu, Casey N. Ta, Jim M. Havrilla, Jordan G. Nestor, Matthew E. Spotnitz, Andrew S. Geneslaw, Yu Hu, Wendy K. Chung, Kai Wang, Chunhua Weng
Summary: This study presents an open annotation resource, derived from real-world data, for annotating phenotypic traits related to rare genetic diseases. By leveraging ontology mapping and natural language processing methods, this resource can automatically extract concepts for rare diseases and their phenotypic traits. Compared to manual annotation, it can identify more disease-phenotype associations and can be shared across different institutions.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Victor G. Castano, Matthew Spotnitz, Genna J. Waldman, Evan F. Joiner, Hyunmi Choi, Anna Ostropolets, Karthik Natarajan, Guy M. McKhann, Ruth Ottman, Alfred Neugut, George Hripcsak, Brett E. Youngerman
Summary: This study developed and compared computable phenotypes for drug-resistant epilepsy (DRE) using the Observational Medical Outcomes Partnership (OMOP) Common Data Model. The computable phenotypes showed varying tradeoffs between sensitivity and specificity in identifying DRE in electronic health record (EHR)-derived data. These phenotypes can be applied in large-scale international clinical databases for further validation and observational research, improving access to appropriate care for patients with DRE.
Article
Health Care Sciences & Services
Matthew Spotnitz, Nripendra Acharya, James J. Cimino, Shawn Murphy, Bahram Namjou, Nancy Crimmins, Theresa Walunas, Cong Liu, David Crosslin, Barbara Benoit, Elisabeth Rosenthal, Jennifer A. Pacheco, Anna Ostropolets, Harry Reyes Nieva, Jason S. Patterson, Lauren R. Richter, Tiffany J. Callahan, Ahmed Elhussein, Chao Pang, Krzysztof Kiryluk, Jordan Nestor, Atlas Khan, Sumit Mohan, Evan Minty, Wendy Chung, Wei-Qi Wei, Karthik Natarajan, Chunhua Weng
Summary: This study develops a comprehensive metadata framework for defining computational clinical phenotypes. The framework was positively evaluated by more than 90% of the survey respondents in terms of phenotype definition and validation methods and metrics. The strengths of the framework include explicit descriptions, compliance with data standards, and comprehensive validation methods.
Review
Computer Science, Information Systems
Anna Ostropolets, George Hripcsak, Syed A. Husain, Lauren R. Richter, Matthew Spotnitz, Ahmed Elhussein, Patrick B. Ryan
Summary: Researchers developed a phenotype evaluation tool called KEEPER, which extracts structured data elements from patients and presents them based on clinical reasoning principles. The results showed that KEEPER was faster than manual chart review for case ascertainment, and there was higher agreement among clinicians when using KEEPER.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2023)
Article
Medicine, Research & Experimental
Ana Szarfman, Jonathan G. Levine, Joseph M. Tonning, Frank Weichold, John C. Bloom, Janice M. Soreth, Mark Geanacopoulos, Lawrence Callahan, Matthew Spotnitz, Qin Ryan, Meg Pease-Fye, John S. Brownstein, W. Ed Hammond, Christian Reich, Russ B. Altman
Summary: Efficient and easy access to large quantities of health data is crucial for improving medical care and advancing medical research. This article discusses the importance of standardized data collection and transmission systems, universal identifiers, and modernized working practices in achieving this goal.
COMMUNICATIONS MEDICINE
(2022)
Letter
Obstetrics & Gynecology
Matthew E. Spotnitz, Karthik Natarajan, Patrick B. Ryan, Carolyn L. Westhoff
OBSTETRICS AND GYNECOLOGY
(2020)