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3. Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium

Author

Kishan L. Asokan, Jennifer R. Landes, Wannes Renders, Laura Muiño Mosquera, Julie De Backer, David W. Jantzen, Anji T. Yetman, Gisela Teixido‐Tura, Arturo Evangelista, Richmond Jeremy, Edward G. Jones, Shaine Morris, Tam Doan, Maral Ouzonian, Alan Braverman, Guillaume Jondeau, Olivier Milleron, Dianna M. Milewicz, and Siddharth K. Prakash

Subjects
cardiovascular genetics, congenital heart disease, Loeys–Dietz syndrome, mitral valve, thoracic aortic aneurysms and dissections, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background Mitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease gene in a cross‐sectional analysis of 2014–2023 data in the Montalcino Aortic Consortium registry. Methods and Results MAD was determined by direct measurement of echocardiographic images. MR and MVP were defined according to current clinical guidelines. Associations were evaluated using χ2 or Fisher exact tests. MR and MVP were enriched in Montalcino Aortic Consortium participants (672) with pathogenic variants (PV) in transforming growth factor‐β pathway genes. The combination of MR and MVP was associated with mitral surgery and arrhythmias. In the subgroup with available images, MAD was enriched in SMAD3 PV compared with other transforming growth factor‐β PV (prevalence ratio 1.8 [1.1–2.8], P 10 mm) was only observed in the transforming growth factor‐β subgroup and was further enriched in participants with SMAD3 PV (prevalence ratio 3.1 [1.1–8.6]). MVP (prevalence ratio 5.2 [3.0–9.0]) and MR (PR 2.7 [1.8–3.9]) were increased in participants with MAD, but MAD was not independently associated with adverse cardiac or aortic events. Conclusions Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor‐β pathway genes, particularly SMAD3. MR and MVP but not MAD are associated with adverse aortic and cardiac events. Because congenital mitral disease may be the primary presenting feature of SMAD3 PV, genetic testing for heritable thoracic aortic disease should be considered for such individuals, especially if they also have a family history of heritable thoracic aortic disease.

Published
2024
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4. Enhancing the efficiency of photovoltaic cells through the usage of dye concentrators

Author

Ewa Brągoszewska, Magdalena Bogacka, Agata Wajda, and Bartłomiej Milewicz

Subjects
photovoltaic cells, solar concentrator, silicon cells, solar energy, dyes, renewable energy, General Works
Abstract

Over the past few years, there has been a growing interest in renewable energy sources. Among them, photovoltaic (PV) technology is advancing rapidly. Solar insolation is the most crucial factor for PV installations. Various solutions, such as tracking mechanisms, hybrid systems, and new materials, can enhance the efficiency of PV systems. Concentrators focus solar light onto the surface of solar modules, increasing production of electricity. Implementing such solutions can reduce the number of silicon cells in installations, leading to a decrease in waste generated during production. Dye concentrators have a positive impact on the performance of silicon systems. A two-stage study on the effect of dye concentrator application on PV cell efficiency is carried out. In the first stage, specific types of dye concentrators are tested for their interaction with the silicon system. Tinted and luminescent acrylic glass (polymethyl methacrylate, PMMA) in yellow and red are used as dye concentrators. The experiment included multiple measurement calibrations, such as the temperature of the tested silicon cell and the intensity of illuminance. Results showed absolute increase of efficiency in solar cells ranging from 0.05% to 1.42%, depending on the type of concentrator used. The most significant improvements were observed with luminescent red PMMA, averaging at 1.21%. The potential of this concentrator was further explored in the second stage of the study, investigating the relationship between the surface involvement of the silicon cell and the dye concentrator. Test results indicated the potential of dye concentrators for integrating luminescent dye concentrator technology into PV systems. The effect of this integration is increase in the efficiency of the PV cell. On the other hand, it should be noted that replacing the PV cell with a dye concentrator reduces the efficiency of the entire photovoltaic system. Hence, the use of a PV cell and concentrator system is recommended especially for photovoltaic systems with a large area. As dye concentrators have the ability to operate without direct irradiance, they are also recommended for regions where natural light is dispersed.

Published
2024
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5. Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

Author

Mansoorshahi, Sara, Yetman, Anji T., Bissell, Malenka M., Kim, Yuli Y., Michelena, Hector I., De Backer, Julie, Mosquera, Laura Muiño, Hui, Dawn S., Caffarelli, Anthony, Andreassi, Maria G., Foffa, Ilenia, Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin T., Morris, Shaine A., Body, Simon C., Chong, Jessica X., Bamshad, Michael J., Milewicz, Dianna M., and Prakash, Siddharth K.

Published
2024
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6. Insights From the Histopathologic Analysis of Acquired and Genetic Thoracic Aortic Aneurysms and Dissections

Author

L. Maximilian Buja, MD, Bihong Zhao, MD, PhD, Humaira Sadaf, MD, Michelle McDonald, DO, Ana M. Segura, MD, Li Li, MD, PhD, Alana Cecchi, MS, Siddharth K. Prakash, MD, Rana O. Afifi, MD, Charles C. Miller, PhD, Anthony L. Estrera, MD, and Dianna M. Milewicz, MD, PhD

Subjects
aortic aneurysm, aortic dissection, tunica media, pathology, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Objective The purpose of this study was to apply contemporary consensus criteria developed by the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology to the evaluation of aortic pathology, with the expectation that the additional pathologic information may enhance the understanding and management of aortic diseases. Methods A scoring system was applied to ascending aortic specimens from 42 patients with heritable thoracic aortic disease and known genetic variations and from 86 patients from a single year, including patients with known genetic variations (n = 12) and patients with sporadic disease (n = 74). Results The various types of lesions of medial degeneration and the overall severity of medial degeneration overlapped considerably between those patients with heritable disease and those with sporadic disease; however, patients with heritable thoracic aortic disease had significantly more overall medial degeneration (P = .004) and higher levels of elastic fiber fragmentation (P = .03) and mucoid extracellular matrix accumulation (P = .04) than patients with sporadic thoracic aortic disease. Heritable thoracic aortic disease with known genetic variation was more prevalent in women than in men (27.2% vs 9.8%; P = .04), and women had more severe medial degeneration than men (P = .04). Medial degeneration scores were significantly lower for patients with bicuspid aortic valves than for patients with tricuspid aortic valves (P = .03). Conclusion The study’s findings indicate considerable overlap in the pattern, extent, and severity of medial degeneration between sporadic and hereditary types of thoracic aortic disease. This finding suggests that histopathologic medial degeneration represents the final common outcome of diverse pathogenetic factors and mechanisms.

Published
2024
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8. Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación

Author

Hector I. Michelena, Alessandro della Corte, Arturo Evangelista, Joseph J. Maleszewski, William D. Edwards, Mary J. Roman, Richard B. Devereux, Borja Fernández, Federico M. Asch, Alex J. Barker, Lilia M. Sierra-Galán, Laurent de Kerchove, Susan M. Fernandes, Paul W.M. Fedak, Evaldas Girdauskas, Victoria Delgado, Suhny Abbara, Emmanuel Lansac, Siddharth K. Prakash, Malenka M. Bissell, Bogdan A. Popescu, Michael D. Hope, Marta Sitges, Vinod H. Thourani, Phillippe Pibarot, Krishnaswamy Chandrasekaran, Patrizio Lancellotti, Michael A. Borger, John K. Forrest, John Webb, Dianna M. Milewicz, Raj Makkar, Martin B. Leon, Stephen P. Sanders, Michael Markl, Victor A. Ferrari, William C. Roberts, Jae-Kwan Song, Philipp Blanke, Charles S. White, Samuel Siu, Lars G. Svensson, Alan C. Braverman, Joseph Bavaria, Thoralf M. Sundt, Gebrine El Khoury, Ruggero de Paulis, Maurice Enriquez-Sarano, Jeroen J. Bax, Catherine M. Otto, and Hans-Joachim Schäfers

Subjects
Válvula aórtica bicúspide. Aortopatía. Nomenclatura. Clasificación. VAB. Válvula aórtica bivalva., Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Este consenso de nomenclatura y clasificación para la válvula aórtica bicúspide congénita y su aortopatía está basado en la evidencia y destinado a ser utilizado universalmente por médicos (tanto pediatras como de adultos), médicos ecocardiografistas, especialistas en imágenes avanzadas cardiovasculares, cardiólogos intervencionistas, cirujanos cardiovasculares, patólogos, genetistas e investigadores que abarcan estas áreas de investigación clínica y básica. Siempre y cuando se disponga de nueva investigación clave y de referencia, este consenso internacional puede estar sujeto a cambios de acuerdo con datos basados en la evidencia1.

Published
2024
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9. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program

Author

Klarin, Derek, Devineni, Poornima, Sendamarai, Anoop K., Angueira, Anthony R., Graham, Sarah E., Shen, Ying H., Levin, Michael G., Pirruccello, James P., Surakka, Ida, Karnam, Purushotham R., Roychowdhury, Tanmoy, Li, Yanming, Wang, Minxian, Aragam, Krishna G., Paruchuri, Kaavya, Zuber, Verena, Shakt, Gabrielle E., Tsao, Noah L., Judy, Renae L., Vy, Ha My T., Verma, Shefali S., Rader, Daniel J., Do, Ron, Bavaria, Joseph E., Nadkarni, Girish N., Ritchie, Marylyn D., Burgess, Stephen, Guo, Dong-chuan, Ellinor, Patrick T., LeMaire, Scott A., Milewicz, Dianna M., Willer, Cristen J., Natarajan, Pradeep, Tsao, Philip S., Pyarajan, Saiju, and Damrauer, Scott M.

Published
2023
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10. Validation and characterization of a novel blood–brain barrier platform for investigating traumatic brain injury

Author

Christopher T. Bolden, Max A. Skibber, Scott D. Olson, Miriam Zamorano Rojas, Samantha Milewicz, Brijesh S. Gill, and Charles S. Cox

Subjects
Medicine, Science
Abstract

Abstract The Blood–Brain Barrier (BBB) is a highly-selective physiologic barrier responsible for maintaining cerebral homeostasis. Innovative in vitro models of the BBB are needed to provide useful insights into BBB function with CNS disorders like traumatic brain injury (TBI). TBI is a multidimensional and highly complex pathophysiological condition that requires intrinsic models to elucidate its mechanisms. Current models either lack fluidic shear stress, or neglect hemodynamic parameters important in recapitulating the human in vivo BBB phenotype. To address these limitations in the field, we developed a fluid dynamic novel platform which closely mimics these parameters. To validate our platform, Matrigel-coated Transwells were seeded with brain microvascular endothelial cells, both with and without co-cultured primary human astrocytes and bone-marrow mesenchymal stem cells. In this article we characterized BBB functional properties such as TEER and paracellular permeability. Our platform demonstrated physiologic relevant decreases in TEER in response to an ischemic environment, while directly measuring barrier fluid fluctuation. These recordings were followed with recovery, implying stability of the model. We also demonstrate that our dynamic platform is responsive to inflammatory and metabolic cues with resultant permeability coefficients. These results indicate that this novel dynamic platform will be a valuable tool for evaluating the recapitulating BBB function in vitro, screening potential novel therapeutics, and establishing a relevant paradigm to evaluate the pathophysiology of TBI.

Published
2023
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11. Determination of dynamic parameters of a tram wheel parts in a numerical and experimental modal analysis

Author

Julia Milewicz, Krzysztof Kołodziejczak, Tomasz Nowakowski, and Grzegorz M. Szymański

Subjects
modal analysis, rail vehicles, simulation, modes extraction, Engineering (General). Civil engineering (General), TA1-2040, Transportation engineering, TA1001-1280, Automation, T59.5
Abstract

The analysis of dynamic parameters finds effective application in processes related to the assessment of the technical condition of machines. Mass transport vehicles are particularly sensitive to maintaining an appropriate level of traffic safety through relevant design and diagnostics. The combination of numerical and experimental methods increases the efficiency of modal properties investigations, which can be used as diagnostic parameters. During the research, the authors performed a numerical model of a system composed of a rim and an inner disc of a wheel fitted in a Konstal 105Na tram, widely used in many polish cities and frequently subjected to repair and renovation processes. The Time Response analysis in SOLIDWORKS (also called Modal Time History) was then conducted, resulting in obtaining information about object vibration response in time domain to the impulsive excitation at given points. These signals were then processed in MATLAB aiming at determining the frequencies of natural vibration and damping ratios. The processing parameters in MATLAB were corresponding to the analysis settings of the experimental measurement, carried out within the BK Connect environment, with an impact modal hammer and piezoelectric transducers. When analyzing the experimental measurements, the authors applied Fast Fourier Transformation, Frequency Response Function and Complex Mode Indicator Function (the theoretical basis of which and practical sense of application were also presented in the paper). Finally, the results of the experiment were compared with simulation outcomes. This comparison allowed the obtainment of frequency characteristics of the vibration response to the impact and the deter-mination of the dynamic parameters of the actual object. Six frequencies of natural vibrations were determined in the frequency range of 0 to 3000 Hz, as well as their damping ratios and autocorrelation indicators between modes. Similarities and potential sources of differences between the numerical and the experimental results were identified and explained, followed by conclusions on the practical application of the presented research methodology in the industry.

Published
2023
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12. Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

Author

Steven G Carlisle, Hasan Albasha, Hector I Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T Yetman, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Dianna M Milewicz, Simon C Body, Siddharth K Prakash, EBAV Investigators, and BAVCon Investigators

Subjects
Medicine, Science
Abstract

Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms. We determined the frequency and gene content of rare CNVs in EBAV probands (n = 272) using genome-wide SNP microarray analysis and three complementary CNV detection algorithms (cnvPartition, PennCNV, and QuantiSNP). Unselected control genotypes from the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in a BAV cohort with late onset sporadic disease (n = 5040). We identified 3 large and rare (< 1,1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated was increased in case-control analysis. CNVs intersecting with GATA4 and DSCAM were enriched in cases, recurrent in other datasets, and segregated with disease in families. In total, we identified potentially pathogenic CNVs in 9% of EBAV cases, implicating alterations of candidate genes at these loci in the pathogenesis of BAV.

Published
2024
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14. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines

Author

Isselbacher, Eric M., Preventza, Ourania, Hamilton Black, James, III, Augoustides, John G., Beck, Adam W., Bolen, Michael A., Braverman, Alan C., Bray, Bruce E., Brown-Zimmerman, Maya M., Chen, Edward P., Collins, Tyrone J., DeAnda, Abe, Jr., Fanola, Christina L., Girardi, Leonard N., Hicks, Caitlin W., Hui, Dawn S., Schuyler Jones, William, Kalahasti, Vidyasagar, Kim, Karen M., Milewicz, Dianna M., Oderich, Gustavo S., Ogbechie, Laura, Promes, Susan B., Ross, Elsie Gyang, Schermerhorn, Marc L., Singleton Times, Sabrina, Tseng, Elaine E., Wang, Grace J., Woo, Y. Joseph, Faxon, David P., Upchurch, Gilbert R., Jr, Aday, Aaron W., Azizzadeh, Ali, Boisen, Michael, Hawkins, Beau, Kramer, Christopher M., Luc, Jessica G.Y., MacGillivray, Thomas E., Malaisrie, S. Christopher, Osteen, Kathryn, Patel, Himanshu J., Patel, Parag J., Popescu, Wanda M., Rodriguez, Evelio, Sorber, Rebecca, Tsao, Philip S., Santos Volgman, Annabelle, Beckman, Joshua A., Otto, Catherine M., O'Gara, Patrick T., Armbruster, Anastasia, Birtcher, Kim K., de las Fuentes, Lisa, Deswal, Anita, Dixon, Dave L., Gorenek, Bulent, Haynes, Norrisa, Hernandez, Adrian F., Joglar, José A., Jones, W. Schuyler, Mark, Daniel, Mukherjee, Debabrata, Palaniappan, Latha, Piano, Mariann R., Rab, Tanveer, Spatz, Erica S., and Tamis-Holland, Jacqueline E.

Published
2023
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15. Investigation on the Possibility of Improving the Performance of a Silicon Cell Using Selected Dye Concentrator

Author

Ewa Brągoszewska, Bartłomiej Milewicz, and Agata Wajda

Subjects
photovoltaic cells, silicon cells, dye concentrator, renewable energy, Technology
Abstract

There are many opportunities to increase the efficiency of photovoltaic cells. These include solutions such as tracking mechanisms, hybrid systems or dye concentrators. Importantly, their implementation can reduce the number of silicon cells in installations, leading to reduced environmental impact. The principle of a dye concentrator is to focus sunlight onto the surface of PV modules, increasing electricity production. In this study, the potential for increased PV cell efficiency is investigated using a selected dye concentrator—tinted and luminescent acrylic glass (polymethylmethacrylate, PMMA) in yellow and red colors. The experiment included multiple measurement calibrations, such as the temperature of the silicon cell under test and the irradiation, as well as different variants of PV systems consisting of a silicon cell and different types of PMMA. Overall, the results show an increase in PV cell performance and the dependence of the increase on the type of PMMA used. The most favorable of the PV systems tested appeared to be the combination of a PV cell with a red luminescent PV, for which an average efficiency improvement of 1.21% was obtained.

Published
2024
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16. A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Eagle, Kim, Byers, Peter, Klein-Rogers, Eva, Milewicz, Dianna, Mussa, Firas, Soderlund, Timo, and Cotter, Novelette

Published
2022
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17. Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation

Author

Suravi Majumder, Abhijnan Chattopadhyay, Jamie M. Wright, Pujun Guan, L. Maximilian Buja, Callie S. Kwartler, and Dianna M. Milewicz

Subjects
Genetics, Vascular biology, Medicine
Abstract

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is caused by biallelic loss-of-function variants in pericentrin (PCNT), and premature coronary artery disease (CAD) is a complication of the syndrome. Histopathology of coronary arteries from patients with MOPDII who died of CAD in their 20s showed extensive atherosclerosis. Hyperlipidemic mice with smooth muscle cell–specific (SMC-specific) Pcnt deficiency (PcntSMC–/–) exhibited significantly greater atherosclerotic plaque burden compared with similarly treated littermate controls despite similar serum lipid levels. Loss of PCNT in SMCs induced activation of heat shock factor 1 (HSF1) and consequently upregulated the expression and activity of HMG-CoA reductase (HMGCR), the rate-limiting enzyme in cholesterol biosynthesis. The increased cholesterol biosynthesis in PcntSMC–/– SMCs augmented PERK signaling and phenotypic modulation compared with control SMCs. Treatment with the HMGCR inhibitor, pravastatin, blocked the augmented SMC modulation and reduced plaque burden in hyperlipidemic PcntSMC–/– mice to that of control mice. These data support the notion that Pcnt deficiency activates cellular stress to increase SMC modulation and plaque burden, and targeting this pathway with statins in patients with MOPDII has the potential to reduce CAD in these individuals. The molecular mechanism uncovered further emphasizes SMC cytosolic stress and HSF1 activation as a pathway driving atherosclerotic plaque formation independently of cholesterol levels.

Published
2023
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18. Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers‐Danlos Syndrome

Author

Sara B. Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Seitaro Oda, Kalyan Kancherla, Tam T. Doan, Siddharth K. Prakash, Justin D. Weigand, Federico M. Asch, Taylor Beecroft, Alana Cecchi, Teniola Shittu, Liliana Preiss, Scott A. LeMaire, Richard B. Devereux, Reed E. Pyeritz, Kathryn W. Holmes, Mary J. Roman, Ronald V. Lacro, Ralph V. Shohet, Rajesh Krishnamurthy, Kim Eagle, Peter Byers, Dianna M. Milewicz, and Shaine A. Morris

Subjects
arterial rupture, cardiovascular, dissection, genetics, VEDS, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background Arterial tortuosity is associated with adverse events in Marfan and Loeys‐Dietz syndromes but remains understudied in Vascular Ehlers‐Danlos syndrome. Methods and Results Subjects with a pathogenic COL3A1 variant diagnosed at age

Published
2023
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21. Atrial Standstill in the Pediatric Population: A Multi-Institution Collaboration

Author

Howard, Taylor S., Chiang, David Y., Ceresnak, Scott R., Ladouceur, Virginie Beausejour, Whitehill, Robert D., Czosek, Richard J., Knilans, Timothy K., Ahnfeldt, Agnethe M., Borresen, Malene Lando, Jaeggi, Edgar, Udupa, Sharmila, Gow, Robert, Moore, Jeremy P., Galloti, Roberto G., Mah, Doug Y., Kim, Jeffrey J., Valdes, Santiago O., Milewicz, Dianna M., and Miyake, Christina Y.

Published
2023
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22. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises

Author

Miyake, Christina Y., Lay, Erica J., Beach, Cheyenne M., Ceresnak, Scott R., Delauz, Caridad M., Howard, Taylor S., Janson, Christopher M., Jardine, Kate, Kannankeril, Prince J., Kava, Maina, Kim, Jeffrey J., Liberman, Leonardo, Macicek, Scott L., Pham, Tam Dam, Robertson, Terry, Valdes, Santiago O., Webster, Gregory, Stephens, Sara B., Milewicz, Diana M., Azamian, Mahshid, Ehsan, Saad A., Houck, Kimberly M., Soler-Alfonso, Claudia, Glinton, Kevin E., Tosur, Mustafa, Li, Na, Xu, Weiyi, Lalani, Seema R., and Zhang, Lilei

Published
2022
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24. Student and Faculty Interaction in Motivated Learning for Face-to-Face and Online Marketing Classes

Author

Celuch, Kevin, Milewicz, Chad, and Saxby, Carl

Abstract

Researchers in the scholarship of teaching and learning are converging on the need to examine deeper motivational processes. This research addresses the conceptual and methodological issues identified in the learning literature. Using situated learning theory and motivational theory we develop hypotheses related to the perceived relational quality of the learning community, perceived student-faculty interaction, and mastery goal orientation. We test for differences between delivery modes and examine relationships among constructs. The research holds implications for future marketing education research and teaching.

Published
2021
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25. Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry

Author

Asch, Federico, Bavaria, Joseph, Desvigne-Nickens, Patrice, Devereux, Richard, Dietz, Harry, Eagle, Kim, Habashi, Jennifer, Holmes, Kathryn, Kroner, Barbara, LeMaire, Scott, McDonnell, Nazli, Maslen, Cheryl, Milewicz, Dianna, Milewski, Rita, Morris, Shaine, Prakash, Siddharth, Pyeritz, Reed, Ravekes, William, Roman, Mary, Shohet, Ralph, Silberbach, G. Michael, Song, Howard, Tolunay, H. Eser, Tseng, Hung, Weinsaft, Jonathan, Frankel, William C., Song, Howard K., Milewski, Rita K., Shalhub, Sherene, Pugh, Norma L., Eagle, Kim A., Roman, Mary J., Pyeritz, Reed E., Maslen, Cheryl L., Ravekes, William J., Milewicz, Dianna M., Coselli, Joseph S., and LeMaire, Scott A.

Published
2020
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27. Can dysglycemia in OGTT be predicted by baseline parameters in patients with PCOS?

Author

Sarantis Livadas, Christina Bothou, Justyna Kuliczkowska-Płaksej, Ralitsa Robeva, Andromahi Vryonidou, Jelica Bjekic Macut, Ioannis Androulakis, Milica Opalic, Zadalla Mouslech, Andrej Milewicz, Alessandra Gambineri, Dimitrios Panidis, and Djuro Macut

Subjects
polycystic ovary syndrome, diabetes, insulin resistance, androgens, age, impaired glucose tolerance, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Background: Polycystic ovary syndrome (PCOS) is considered a risk factor f or the development of type 2 diabetes mellitus (T2DM). However, which is the most appropriate way to evaluate dysglycemia in women with PCOS and who are at i ncreased risk are as yet unclear. Aim of the study: To determine the prevalence of T2DM, impaired glucose toleranc e (IGT), and impaired fasting glucose (IFG) in PCOS women and potential factors to identify those at risk. Subjects and methods: The oral glucose tolerance test (OGTT), biochemical/hormonal profile, and ovarian ultrasound data from 1614 Caucasian women w ith PCOS and 362 controls were analyzed in this cross-sectional multicenter study. The data were categorized according to age and BMI. Results: Dysglycemia (T2DM, IGT, and IFG according to World Health Orga nization criteria) was more frequent in the PCOS group compared to controls: 2.2% vs 0.8%, P = 0.04; 9.5% vs 7.4%, P = 0.038; 14.2% vs 9.1%, P = 0.002, respectively. OGTT was essential for T2DM diagnosis, since in 88% of them basal glucose values were incon clusive for diagnosis. The presence of either T2DM or IFG was irrespective of age ( P = 0.54) and BMI (P = 0.32), although the latter was associated with IGT ( P = 0.021). There was no impact of age and BMI status on the prevalence of T2DM or IFG. Regression analysi s revealed a role for age, BMI, fat deposition, androgens, and insulin resistance for dysg lycemia. However, none of the factors prevailed as a useful marker employed in clinical p ractice. Conclusions: One-third of our cohort of PCOS women with either T2DM or IGT displayed normal fasting glucose values but without confirming any specific predictor for dysglycemic condition. Hence, the evaluation of glycemic status using OGTT in all women with PCOS is strongly supported.

Published
2022
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28. Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Author

Asokan, Kishan L., Landes, Jennifer R., Renders, Wannes, Muiño Mosquera, Laura, De Backer, Julie, Jantzen, David W., Yetman, Anji T., Teixido-Tura, Gisela, Evangelista, Arturo, Jeremy, Richmond, Jones, Edward G., Morris, Shaine, Doan, Tam, Ouzonian, Maral, Braverman, Alan, Jondeau, Guillaume, Milleron, Olivier, Milewicz, Dianna M., and Prakash, Siddharth K.

Published
2024
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29. Differences in the Composition of Akkermansia Species and Families of Christensenellaceae and Ruminococcaceae Bacteria in the Gut Microbiota of Healthy Polish Women following a Typical Western Diet

Author

Barbara Zapała, Justyna Pustelnik, Alicja Dudek, and Tomasz Milewicz

Subjects
healthy microbiome, microbiota, sequencing, 16S rRNA, Biology (General), QH301-705.5
Abstract

The gastrointestinal microbiota consists of trillions of microorganisms that live symbiotically in the human body. The main factor influencing the formation of the gastrointestinal microbiota is lifestyle, particularly the diet of people from different geographic regions. As described in several reports, the gut microbiota composition of healthy adults can be stable for years. However, the relative abundance of each microbe fluctuates over time, and it varies between individuals and within individuals over the course of their lives depending on many factors such as diet and gender. The study aimed to define the basic profile of the oral and gut microbiota in healthy people of Polish ethnicity under the Western diet, showing the stability under one type of diet and dependence on gender. The study group included 144 healthy adults. The research materials were swabs and stool samples. The KomPAN questionnaire was used to examine eating habits. Bacterial 16S rRNA genes were sequenced using the next-generation sequencing (NGS) technology. The respondents followed a typical Western diet. There were no statistically significant differences in alpha species diversity in the oral and gut microbiota between the female and male groups. Statistically significant differences were found in the beta diversity between gut microbiota composition in women and men (p < 0.048). The oral microbiota was dominated by Firmicutes and Proteobacteria, and Firmicutes dominated the gut microbiota. According to the received results, it was found that in healthy adults of Polish origin, there is a basic profile of the oral and gut microbiota ensuring good health condition.

Published
2023
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30. Implementation of telemedicine in the care of patients with aortic dissection

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Wright, Katie, Cotter, Novelett, Yi, Jeniann A., and Drudi, Laura M.

Published
2022
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31. Aortic dissection in pregnancy and the postpartum period

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Russo, Melissa, Albright, Catherine, David, Carmen, and Afifi, Rana

Published
2022
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32. Knowledge gaps in surgical management for aortic dissection

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Hebert, Avery M., del Río-Solá, Lourdes, and Mussa, Firas

Published
2022
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33. Lived experiences of people with or at risk for aortic dissection: A qualitative assessment

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Cotter, Novelett, and Soderlund, Timo

Published
2022
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34. An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review

Author

Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Hofmann Bowman, Marion A., Case, Melanie J., Lee, Jenney, and Eagle, Kim

Published
2022
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35. Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Campos, Chrisanne, and Damrauer, Scott M.

Published
2022
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36. Stakeholder perspectives on education in aortic dissection

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, and Ilonzo, Nicole

Published
2022
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37. The mental health impact of aortic dissection

Author

Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, and Wohlauer, Max

Published
2022
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38. The Aortic Dissection Collaborative: Methods for building capacity for patient-centered outcomes research in the aortic dissection community

Author

Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Case, Melanie, Cotter, Novelett, and Soderlund, Timo

Published
2022
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42. Proteomic analysis of descending thoracic aorta identifies unique and universal signatures of aneurysm and dissection

Author

Louis Saddic, MD, PhD, Amanda Orosco, BS, Dongchuan Guo, PhD, Dianna M. Milewicz, MD, PhD, Dana Troxlair, MD, Richard Vander Heide, MD, David Herrington, MD, Yue Wang, PhD, Ali Azizzadeh, MD, and Sarah J. Parker, PhD

Subjects
Aneurysm, Descending thoracic aorta, Dissection, Proteomics, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Objective: Very few clinical predictors of descending thoracic aorta dissection have been determined. Although aneurysms can dissect in a size-dependent process, most descending dissections will occur without prior enlargement. We compared the proteomic profiles of normal, dissected, aneurysm, and both aneurysm and dissected descending thoracic aortas to identify novel biomarkers and further understand the molecular pathways that lead to tissue at risk of dissection. Methods: We performed proteomic profiling of descending thoracic aortas with four phenotypes: normal (n = 46), aneurysm (n = 22), dissected (n = 12), and combined aneurysm and dissection (n = 8). Pairwise differential protein expression analyses using a Bayesian approach were then performed to identify common proteins that were dysregulated between each diseased tissue type and control aorta and to uncover unique proteins between aneurysmal and dissected aortas. Network and Markov cluster algorithms of differentially expressed proteins were used to find enriched ontology processes. A convex analysis of mixtures was also performed to identify the molecular subtypes within the different tissue types. Results: The diseased aortas had 71 common differentially expressed proteins compared with the control, including higher amounts of the protein thrombospondin 1. We found 42 differentially expressed proteins between the aneurysm and dissected tissue, with an abundance of apolipoproteins in the former and higher quantities of extracellular matrix proteins in the latter. The convex analysis of mixtures showed enhancement of a molecular subtype enriched in contractile proteins within the control tissue compared with the diseased tissue, in addition to increased proportions of molecular subtypes enriched in inflammation and red blood cell expression in the aneurysmal compared with the dissected tissue. Conclusions: We found some overlapping differentially expressed proteins in aneurysmal and nonaneurysmal descending thoracic aortas at risk of dissection compared with normal aortas. However, we also found uniquely altered molecular pathways that might uncover mechanisms for dissection. : Clinical Relevance: Diseases of the descending thoracic aorta such as aneurysms and dissections carry a high degree of morbidity and mortality. At present, a complete understanding is still lacking of the genetics that drive these diseases and why some aortic segments dissect in the presence or absence of an aneurysm. We compared and contrasted the whole proteome expression of descending aortas from patients with normal, dissected, aneurysmal, and aneurysmal with dissected pathology aortic tissue. We uncovered potential tissue markers that might serve as future targets for therapy or predictors of disease progression.

Published
2022
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44. Fibroblast Growth Factor 21 in Gestational Diabetes Mellitus and Type 2 Diabetes Mellitus

Author

Katarzyna Gawlik, Tomasz Milewicz, Dorota Pawlica-Gosiewska, Iwona Trznadel-Morawska, and Bogdan Solnica

Subjects
Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective. Women who develop GDM present a metabolic condition similar to that found in type 2 diabetes, characterized by impaired insulin response. Due to similar pathophysiologic mechanisms found between type 2DM and GDM, there is a great interest in finding markers that will lead to the understanding of a possible common origin to both diseases. The aim of this study was to determine serum FGF21 levels in 2DM and GDM and its correlation with selected metabolic parameters. Method. The study included 54 2DM patients and 52 nondiabetic individuals (control group 1) as well as 74 GDM women and 32 healthy pregnant controls (control group 2). Serum FGF21 was determined by enzyme-linked immunosorbent assay (ELISA), in all groups, and correlated with biochemical parameters of glucose metabolism and insulin resistance (HbA1c, HOMA index, TG, and HDL cholesterol). Results. FGF21 concentration was significantly higher in 2DM as compared with control group 1 (p

Published
2023
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47. Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

Author

Roychowdhury, Tanmoy, Lu, Haocheng, Hornsby, Whitney E., Crone, Bradley, Wang, Gao T., Guo, Dong-chuan, Sendamarai, Anoop K., Devineni, Poornima, Lin, Maoxuan, Zhou, Wei, Graham, Sarah E., Wolford, Brooke N., Surakka, Ida, Wang, Zhenguo, Chang, Lin, Zhang, Jifeng, Mathis, Michael, Brummett, Chad M., Melendez, Tori L., Shea, Michael J., Kim, Karen Meekyong, Deeb, G. Michael, Patel, Himanshu J., Eliason, Jonathan, Eagle, Kim A., Yang, Bo, Ganesh, Santhi K., Brumpton, Ben, Åsvold, Bjørn Olav, Skogholt, Anne Heidi, Hveem, Kristian, Pyarajan, Saiju, Klarin, Derek, Tsao, Philip S., Damrauer, Scott M., Leal, Suzanne M., Milewicz, Dianna M., Chen, Y. Eugene, Garcia-Barrio, Minerva T., and Willer, Cristen J.

Published
2021
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48. International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes

Author

Michelena, Hector I., Della Corte, Alessandro, Evangelista, Arturo, Maleszewski, Joseph J., Edwards, William D., Roman, Mary J., Devereux, Richard B., Fernández, Borja, Asch, Federico M., Barker, Alex J., Sierra-Galan, Lilia M., De Kerchove, Laurent, Fernandes, Susan M., Fedak, Paul W.M., Girdauskas, Evaldas, Delgado, Victoria, Abbara, Suhny, Lansac, Emmanuel, Prakash, Siddharth K., Bissell, Malenka M., Popescu, Bogdan A., Hope, Michael D., Sitges, Marta, Thourani, Vinod H., Pibarot, Phillippe, Chandrasekaran, Krishnaswamy, Lancellotti, Patrizio, Borger, Michael A., Forrest, John K., Webb, John, Milewicz, Dianna M., Makkar, Raj, Leon, Martin B., Sanders, Stephen P., Markl, Michael, Ferrari, Victor A., Roberts, William C., Song, Jae-Kwan, Blanke, Philipp, White, Charles S., Siu, Samuel, Svensson, Lars G., Braverman, Alan C., Bavaria, Joseph, Sundt, Thoralf M., El Khoury, Gebrine, De Paulis, Ruggero, Enriquez-Sarano, Maurice, Bax, Jeroen J., Otto, Catherine M., and Schäfers, Hans-Joachim

Published
2021
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49. Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional, and research purposes

Author

Michelena, Hector I., Della Corte, Alessandro, Evangelista, Arturo, Maleszewski, Joseph J., Edwards, William D., Roman, Mary J., Devereux, Richard B., Fernández, Borja, Asch, Federico M., Barker, Alex J., Sierra-Galan, Lilia M., De Kerchove, Laurent, Fernandes, Susan M., Fedak, Paul W.M., Girdauskas, Evaldas, Delgado, Victoria, Abbara, Suhny, Lansac, Emmanuel, Prakash, Siddharth K., Bissell, Malenka M., Popescu, Bogdan A., Hope, Michael D., Sitges, Marta, Thourani, Vinod H., Pibarot, Phillippe, Chandrasekaran, Krishnaswamy, Lancellotti, Patrizio, Borger, Michael A., Forrest, John K., Webb, John, Milewicz, Dianna M., Makkar, Raj, Leon, Martin B., Sanders, Stephen P., Markl, Michael, Ferrari, Victor A., Roberts, William C., Song, Jae-Kwan, Blanke, Philipp, White, Charles S., Siu, Samuel, Svensson, Lars G., Braverman, Alan C., Bavaria, Joseph, Sundt, Thoralf M., Khoury, Gebrine El, De Paulis, Ruggero, Enriquez-Sarano, Maurice, Bax, Jeroen J., Otto, Catherine M., and Schäfers, Hans-Joachim

Published
2021
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50. Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

Author

Shreyas A. Bhave, Dongchuan Guo, Stoyan N. Angelov, Michael J. Bamshad, Deborah A. Nickerson, Dianna M. Milewicz, and Mary C. Wallingford

Subjects
genomic variants, hereditary hemorrhagic telangiectasia, thoracic aortic aneurysm, vascular malformations, SMAD4, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Thoracic aortic aneurysms (TAAs) that progress to acute thoracic aortic dissections (TADs) are life-threatening vascular events that have been associated with altered transforming growth factor (TGF) β signaling. In addition to TAA, multiple genetic vascular disorders, including hereditary hemorrhagic telangiectasia (HHT), involve altered TGFβ signaling and vascular malformations. Due to the importance of TGFβ, genomic variant databases have been curated for activin receptor-like kinase 1 (ALK1) and endoglin (ENG). This case report details seven variants in SMAD4 that are associated with either heritable or early-onset aortic dissections and compares them to pathogenic exon variants in gnomAD v2.1.1. The TAA and TAD variants were identified through whole exome sequencing of 346 families with unrelated heritable thoracic aortic disease (HTAD) and 355 individuals with early-onset (age ≤ 56 years old) thoracic aortic dissection (ESTAD). An allele frequency filter of less than 0.05% was applied in the Genome Aggregation Database (gnomAD exome v2.1.1) with a combined annotation-dependent depletion score (CADD) greater than 20. These seven variants also have a higher REVEL score (>0.2), indicating pathogenic potential. Further in vivo and in vitro analysis is needed to evaluate how these variants affect SMAD4 mRNA stability and protein activity in association with thoracic aortic disease.

Published
2021
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