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23 citation(s) found for "Vandenberg, E".

Gatherings in Esophagology: Innovations and Future Directions in the Diagnosis and Management of Reflux Disease
Cable, Jennifer, Giuli, R, Fox, Mark , Rosen, Rachel L., Valdovinos‐García, Luis R., Siboni, Stefano, Clarke, John O. , Samuels, Tina L. , Scarpignato, Carmelo , Fass, Ronnie, Remes-Troche, José María, Khan, Abraham, Rahman, Afrin Kamal, Lynch, Kristle L. , Jodorkovsky, Daniela , Vela, Marcelo F. , Vandenberg, Alexandra, Kuo, Braden, Ergün, Pelin , Jirapinyo, Pichamol, Asti, Emanuele, Tolone, Salvatore, Salvador, Renato , Sozzi, Marco, Husain, Inna, Wu, J. , Hobson, Anthony, Sharma, Nirmal , Gyawali, C. Prakash, Sifrim, Daniel, Savarino, E V, Bortoli, Nicola De, Rogers, Benjamin D. , Clarke, J , Valdovinos-García, Luis R. , Siboni, Stefano , Johnston, Nikki , Stein, Ellen M. , Fass, Ronnie , Remes Troche, José M , Kuo, Braden , Jirapinyo, Pichamol , Asti, Emanuele , Sheu, Eric Garland , Sozzi, Marco , Hobson, Anthony, Lo, Wai–Kit , Duncan, Daniel R. , Gyawali, C. Prakash , Chan, Walter W. , Sifrim, Daniel

Annals of the New York Academy of Sciences | March 12, 2026 | Volume: 1557 | Issue: 1 | Pages: No page available

10.1111/nyas.70225 | PMID 41817458 Get It

ABSTRACT Recent advances in the diagnosis and management of reflux disease were the central focus of the inaugural Gatherings in Esophagology (GiE), which convened experts across gastroenterology, surgery, otolaryngology, pulmonology, and basic research. The sessions highlighted innovations in reflux monitoring—including high‐resolution manometry, wireless pH monitoring, and novel salivary biomarkers—while critically evaluating their diagnostic accuracy and clinical utility. Presentations explored the limitations of traditional proton‐pump inhibitor therapy, the emergence of potassium‐competitive acid blockers as a new class of acid suppressants, and the evolving role of adjunctive treatments such as mucosal protectants, reflux reducers, and neuromodulators for refractory symptoms. The discourse extended to advanced interventional procedures, including transoral incisionless fundoplication, magnetic sphincter augmentation, and the RefluxStop device, with discussion of patient selection, efficacy, and complication management. Discussants emphasized the pathophysiology and management of extraesophageal manifestations of reflux, the interplay between reflux and pulmonary disease, and the diagnostic challenges in pediatric populations. The meeting also addressed the integration of behavioral therapies, the role of the microbiome, and the application of artificial intelligence in reflux diagnostics. Collectively, these insights underscore a shift toward precision medicine in reflux disease, emphasizing individualized diagnostic strategies and tailored therapeutic approaches to improve patient outcomes.
Higher Risk for Morbidity and Non-Aortic Related Mortality in Type 2 Endoleak Patients Treated Outside of Instructions for Use
Esquetini-Vernon, Camila , Farres, Houssam , Polanía-Sandoval, Camilo , Claudio-Medina, Yetzali , Morales-Arroyo, Hennessy, Ritchie, Charles , Jacobs, Christopher S., Paz‐Fumagalli, Ricardo , Toskich, Beau B. , Vandenberg, Jonathan , Mahajan, Biraaj, Jacobs, Christopher, Polania-Sandoval, Camilo A , Esquetini-Vernon, Camila , Jacobs, Christopher, Erben, Young

Vascular and Endovascular Surgery | October 31, 2025 | Volume: 60 | Issue: 4 | Pages: 297-308

10.1177/15385744251395118 | PMID 41172539 Get It

Objective To evaluate outcomes in patients with type 2 endoleak (T2E) and the impact of treatment outside the device instructions for use (IFU). Methods This retrospective single-center study included abdominal aortic aneurysms (AAA) patients who underwent EVAR (2011- 2024). Primary outcomes were 30-day and mid-term complications, reintervention, and mortality by T2E status. Propensity score matching was applied and secondary analysis stratified outcomes by IFU compliance, comparing within ( in IFU) or outside( out IFU) IFU in each T2E group. Results Among 154 EVAR patients (137 men (89.1%) and 17 women (11.0%); mean age 77.5 ± 7.6 years), 77 were T2E(−), and 77 were T2E(+). Baseline characteristics were similar. Thirty-day complications were comparable (T2E(−): 5, 6.4% vs T2E(+): 2, 2.56%, P = 0.72). The mean follow-up duration was 2.7 ± 2.4 years. Sac diameter change (Δ) decreased in the T2E(−) (7.7 ± 8.4 mm) and enlarged in the T2E(+) (1.79 ± 12.5 mm; P < 0.01). Mid-term graft-related complications (T2E(−): 3, 3.8% vs T2E(+): 49, 62.8%, P < 0.01) and reinterventions (T2E(−): 3, 3.8%, vs T2E(+): 20, 25.6% P < 0.01) were higher in the T2E(+) with no difference in mortality ( P = 1.00). These findings remained after excluding type 1 endoleaks. Among the T2E(+), those treated out IFU had longer hospital stays ( out IFU: 3.0 ± 2.8 days vs in IFU: 1.8 ± 2.0 days, P = 0.03), higher T1E ( out IFU: 3, 33.3% vs in IFU: 1, 4.34%, P < 0.01), higher rates of reintervention ( out IFU: 9, 100.0% vs in IFU:17; 24.6%, P < 0.01) and higher all-cause mortality than those within IFU criteria ( out IFU: 5, 55.0% vs in IFU: 13, 18.8%, P < 0.01). IFU status did not significantly affect outcomes in T2E(−) patients. Conclusions T2E is associated with sac growth and increased reinterventions, but not higher mortality. On subgroup analysis, those T2E(+) treated out IFU had longer hospitalizations, higher T1E rates, more reinterventions, and higher all-cause; but not aneurysmal-related mortality.
Regional anesthesia facilitates fistula creation over graft in patients with small-caliber veins: A single-center cohort
Alsabbagh, Yaman , Jlilati, Adeeb , Sarmiento, Joaquin, Lanka, Santh Prakash , Robards, Christopher B., Clendenen, Steven R. , Vandenberg, Jonathan , Jacobs, Christopher R. , Farres, Houssam , Ardon, Alberto E, Jacobs, Christopher, Jlilati, Adeeb , Erben, Young , Ardon, Alberto E. , Jacobs, Christopher

The Journal of Vascular Access | October 8, 2025 | Volume: 27 | Issue: 3 | Pages: 1031-1037

10.1177/11297298251382268 | PMID 41058214 Get It

Objective: To evaluate the efficacy of regional anesthesia (RA) in enabling arteriovenous fistula (AVF) creation in patients with small-caliber veins who would typically receive arteriovenous grafts (AVG), and to compare access outcomes between AVF and AVG cohorts. Methods: We conducted a retrospective analysis of a prospectively maintained database from 2018 through 2024 involving patients with chronic kidney disease (CKD) requiring access creation. Eligible patients were those aged 18 years or older with inadequate veins for AVF creation based on initial ultrasound vein mapping. All patients underwent RA prior to the access creation and had a repeated intraoperative vein mapping at least 30 min after RA. Patients whose veins were sufficiently dilated and met the criteria for AVF creation underwent AVF formation; otherwise, an AVG was created. Outcomes included access maturation, patency rates, access failure, abandonment, and mortality. Statistical analysis was performed using R software, with significance set at p < 0.05. Results: Of the 106 patients, 67 (63.2%) underwent AVF creation post-RA due to sufficient vein dilation, while 39 (36.8%) received AVGs. Baseline vein diameters and comorbidities were comparable between groups. AVF maturation was achieved in 83.6% of AVF patients, with longer times to successful cannulation compared to AVG (median 187.0 vs 80.0 days, p = 0.037). Kaplan-Meier analysis revealed no difference in primary patency ( p = 0.97), but AVF patients had superior primary assisted ( p = 0.015) and secondary patency ( p = 0.033), and lower access failure rates ( p = 0.034) compared to AVG patients. Access abandonment and mortality rates did not differ significantly between groups. Conclusions: RA-induced venodilation enables the use of veins previously deemed inadequate for AVF creation, leading to improved access outcomes compared to AVG placement. Implementing RA may increase AVF utilization and enhance patient outcomes in hemodialysis access surgery.
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Johnson, Renée , Fletcher, Robert A. , Peters, Stacey , Ohanian, Monique , Soka, Magdalena , Smolnikov, Andrei , Abihider, Katherine E, Ackerman, Michael J. , Ader, Flavie , Akhtar, Mohammed , Ashley, Euan A. , Austin, Rachel , Baas, Annette F., Blouin, Jean‐Louis , Brown, Emily E. , Cannie, Douglas , Correnti, Gemma, Ferro, Matteo Dal , Dellefave‐Castillo, Lisa , Dooijes, Dennis , Dybro, Anne M. , Demri, Youssef Ed, Hachmi, Mohamed El , Escobar-López, Luis , Foye, Sarah , Gigli, Marta , López, Esther González , Goudal, Adeline , Graw, Sharon , Guipponi, Michel, Haan, Eric , Haas, Jan , Hammersley, Daniel , Hansen, Frederikke , Hey, Thomas Morris , Houweling, Arjan C. , Ingrey, A., Jabbour, Andrew , Jansweijer, Joeri A. , Jongbloed, Jan D.H. , Keogh, Anne , Deprez, Ronald H. Lekanne , Macciocca, Ivan , Mansencal, Nicolas , Mansour, Julia, Martinez‐Veira, Cristina, Medo, Kristen , Merlo, Marco , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Murphy, Anne M. , Murray, Brittney , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L. , Picard, Kermshlise, Prasad, Sanjay , Proukhnitzky, Julie , Pruny, Jean-François, Réant, Patricia , Ronan, Anne , Semsarian, Christopher , Storm, Garrett , Thomson, Kate , Thompson, Tina , Wallis, Mathew , Flagship, Australian Genomics Cardiac, Adès, Lesley C., Alankarage, Dimithu, almog, Morgan, Al-Shinnag, Mohammad , Barnett, Chris , Bodek, Simon , Boggs, Kirsten, Bray, Alessandra , Brown, Jaye, Burns, Charlotte , Cao, Michelle, Carr, Will, Casauria, Sarah , Chalinor, Heather V., Chang, Yu‐Chen , Charitou, Theodosia , Collins, Felicity, Correnti, Gemma, Cox, Kathy, Das, Debjani , Fazio, Paul De, Elzen, Nicola Den, Devery, Sophie , Dobbins, Julia , Elbracht-Leong, Stefanie, Enríquez, A. Juanico, Fatkin, Diane , Fear, Vanessa S. , Fine, Miriam, Garza, Denisse , Gongolidis, Laura, Gray, Belinda , Greer, Cassie, Haan, Eric, Haas, Mathilda, Hanna, Bernadette , Hayward, Janette, Herrera, Carmen, Hill, Adam P. , Hollingsworth, Georgie, Hollway, Georgina E. , Horton, Ari , Ingles, Jodie, Isbister, Joanne , Jane-Pantaleo, Sarah, Kelly, Andrew , King‐Smith, Sarah L., Lassman, Timo, Lipton, Jonathon, MacIntyre, Paul, Madelli, Evanthia O. , Martin, Ellenore , Medi, C., Metke, Alejandro, Morrish, A., Morwood, Jim, Mowat, David , Ng, Chai‐Ann , Nowak, Natalie , Martinez, Noelia Nunez, O'Sullivan, S. S. , Overkov, Angela, Perrin, Mark J. , Perry, Matthew , Pflaumer, Andreas , Phillips, Peta, Phuong, Thuan, Pope-Couston, Rachel, Poplawski, Nicola K., Punni, Preeti, Rajagopalan, Sulekha , Regan, Matthew, Rogers, Jonathan, Ryan, Mark , Sandaradura, Sarah A. , Schönrock, Nicole, Scuffham, Paul , Sherburn, Isabella, Sherlock, Mary-Clare, Smerdon, Carla, Smith, Janine , Smyth, Renee, Sy, Raymond W. , Tang, Dotti, Taylor, Shelby , Tchan, Michel , Trainer, Alison, Trivedi, Gunjan, Spaendonck‐Zwarts, Karin van , Vandenberg, Jamie I. , Verma, Kunal , Vidgen, Miranda E. , Vohra, Jitendra K. , Waddel-Smith, Kathryn, Weintraub, Robert G, Worgan, Lisa , Wornham, Linda, Wu, Kathy H. C. , Yeates, Laura , Zentner, Dominica, Arnott, Clare , Fokstuen, Siv , Meder, Benjamin , Giudicessi, John R. , Parikh, Victoria N. , Ware, James S. , Rooryck, Caroline , Lakdawala, Neal K. , Elliott, Perry , Charron, Philippe , Peña‐Peña, María Luisa, Mogensen, Jens , Rasmussen, Torsten B. , Seidman, Jonathan G. , Seidman, Christine E. , Riele, Anneline S.J.M. te , Pinto, Yigal M. , Christiaans, Imke , Fatkin, Diane, Gray, Belinda , Akhtar, Mohammed M , Amin, Ahmad S , Ashley, Euan A , Atherton, John J , Austin, Rachel , Baas, Annette F , Bagnall, Richard D , Ross, Samantha Barratt , Blouin, Jean-Louis , Brown, Emily E , Bundgaard, Henning , Cannie, Douglas , Chmielewski, Przemyslaw , Crespo-Leiro, Maria Generosa , Dal Ferro, Matteo , Dellefave-Castillo, Lisa M , Dominguez, Fernando , Dybro, Anne M , Ed Demri, Youssef , El Hachmi, Mohamed , Escobar-Lopez, Luis , Foye, Sarah Jajesnica , Franaszczyk, Maria , Gigli, Marta , Goudal, Adeline , Graw, Sharon , Guipponi, Michel , Haan, Eric , Hammersley, Daniel J , Hansen, Frederikke G , Hayward, Chris , Hey, Thomas Morris , Ho, Carolyn Y , Houweling, Arjan C , Jabbour, Andrew , Jansweijer, Joeri A , Jongbloed, Jan D H , Keogh, Anne M , Larrañaga-Moreira, Jose M , Lekanne Deprez, Ronald H , Macciocca, Ivan , Macdonald, Peter S , McDonough, Barbara , McGaughran, Julie , Medo, Kristen , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Muller, Steven A , Murphy, Anne M , Oates, Emily C , Ormondroyd, Elizabeth , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L , Proukhnitzky, Julie , Reant, Patricia , Richard, Pascale , Ronan, Anne , Sedaghat-Hamedani, Farbod , Semsarian, Christopher , Storm, Garrett , Stroeks, Sophie , Taylor, Matthew R G , Thomson, Kate , Thompson, Tina , van Tintelen, J Peter , Vissing, Christoffer Rasmus , Waddell-Smith, Kathryn E , Wallis, Mathew , Marian, Ali J , Fokstuen, Siv , Giudicessi, J R , Parikh, Victoria N , Piriou, Nicolas , Rooryck, Caroline , Lakdawala, Neal K , Mestroni, Luisa , van Spaendonck-Zwarts, Karin Y , Garcia-Pavia, Pablo , Peña-Peña, Maria Luisa , Christensen, Alex Hoerby , Bilińska, Zofia T , Rasmussen, Torsten B , Seidman, Jonathan G , Seidman, Christine E , Te Riele, Anneline S J M , Ware, James S , Gray, Belinda , Vandenberg, Jamie I , Fletcher, Robert A , Amin, Ahmad S. , Bundgaard, Henning , Crespo‐Leiro, María G. , Domínguez, Fernándo , Heymans, Stéphane , Ho, Carolyn Y. , Ingles, Jodie , James, Paul A. , McGaughran, Julie , Paldino, Alessia , Poplawski, Nicola Kazia , Prasad, Sanjay K , Syrris, Petros , Taylor, Matthew R.G. , Tintelen, J. Peter van , Zentner, Dominica , Flagship, Australian Genomics Cardiac, Barnett, Chris, Blue, Gillian M. , Bogwitz, Michael R. , Boughtwood, Tiffany F. , Brion, Marie‐Jo , Bryson‐Richardson, Robert J. , Burnett, Leslie , Chapman, Gavin , Chong, Belinda , Correnti, Gemma, Cox, Kathy, Cunningham, Fiona, Davis, Jason A. , Davis, Andrew M. , Silva, M. De , Dunwoodie, Sally L. , Dwyer, Nathan , Elliott, David A. , Enriquez, Annabel, Finlay, Keri , Giannoulatou, Eleni , Greer, Cassie, Harvey, Richard Paul , Herrera, Carmen, Hill, Adam, Howting, Denise A. , Jackson, Matilda R. , Johnson, Renee, Kirk, Edwin Philip , Kummerfeld, Sarah , Lunke, Sebastian , MacIntyre, Paul, Mallawaarachchi, Amali C. , Mathew, Jacob , Mattiske, Tessa , McLean, Alison K. , McNamara, James W. , Milnes, Di , Milward, Michael, O'Sullivan, Sinead, Patel, Chirag , Quinn, Michael C. , Raju, Hariharan , Rath, Emma M. , Regan, Matthew, Ryan, Mark, Singer, Emma S. , Stark, Zornitza , Taylor, Jessica, Thorpe, Jordan , Trivedi, Gunjan , Valente, Giulia , Wilson, Meredith , Winlaw, David Scott , Zentner, Dominica, Oh, Jae Won , James, Cynthia A. , Villa, Roberto Barriales , Wahbi, Karim , Mestroni, Luisa , Sinagra, Gianfranco , Watkins, Hugh , McNally, Elizabeth M. , Charron, Philippe , Verdonschot, Job A.J.

European Heart Journal | July 18, 2025 | Volume: 46 | Issue: 48 | Pages: 5240-5257

10.1093/eurheartj/ehaf380 | PMID 40796136 Get It

Abstract Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. Methods An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. Results A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80–30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06–5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27–3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (&lt;30 years) disease (OR, 4.75; 95% CI, 2.35–9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08–.23). Conclusions Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.
Endoconduit: Utilizing the “Pave-and-Crack” Technique to Treat an Abdominal Aortic Aneurysm—A Contemporary Literature Review, and “How We Do It”
Garner, Sydney , Alsabbagh, Yaman , Sorrentino, Mariano, Dahiya, Rockey , Vandenberg, Jonathan , Mahajan, Biraaj, Farres, Houssam , Anderson, Erik , Fazzone, Brian , Jacobs, Christopher R. , Dahiya, Rockey , Sorrentino, Mariano, Erben, Young , Anderson, Erik , Filiberto, Amanda C. , Jacobs, Christopher

Journal of Vascular Diseases | February 12, 2025 | Volume: 4 | Issue: 1 | Pages: 6

10.3390/jvd4010006 Get It

We present an 81-year-old male with an extensive past medical history and an enlarging abdominal aortic aneurysm (AAA). Axial imaging showed dense aortoiliac calcification with a complete occlusion of the right common iliac and high-grade stenosis of the left common iliac artery (CIA). Shockwave Intravascular Lithotripsy and the pave-and-crack technique utilizing an endoconduit were used to dilate the left external iliac artery and the CIA to facilitate placement of an aortic stent graft and exclude the patient’s AAA. This method gives surgeons the ability to treat patients with AAAs endovascularly, despite a heavily diseased and/or diminutive iliac anatomy. We also present a contemporary literature review of the utilization of the pave-and-crack technique as well as tips and tricks of how we do it.
New Trends of Personalized Medicine in the Management of Abdominal Aortic Aneurysm: A Review
Alsabbagh, Yaman , Vandenberg, Jonathan , Farres, Houssam , Farres, Houssam , Erben, Young

Journal of Personalized Medicine | December 10, 2024 | Volume: 14 | Issue: 12 | Pages: 1148

10.3390/jpm14121148 | PMID 39728062 Get It

Abdominal aortic aneurysm (AAA) is a significant vascular condition characterized by the dilation of the abdominal aorta, presenting a substantial risk of rupture and associated high mortality rates. Current management strategies primarily rely on aneurysm diameter and growth rates to predict rupture risk and determine the timing of surgical intervention. However, this approach has limitations, as ruptures can occur in smaller AAAs below surgical thresholds, and many large AAAs remain stable without intervention. This review highlights the need for more precise and individualized assessment tools that integrate biomechanical parameters such as wall stress, wall strength, and hemodynamic factors. Advancements in imaging modalities like ultrasound elastography, computed tomography (CT) angiography, and magnetic resonance imaging (MRI), combined with artificial intelligence, offer enhanced capabilities to assess biomechanical indices and predict rupture risk more accurately. Incorporating these technologies can lead to personalized medicine approaches, improving decision-making regarding the timing of interventions. Additionally, emerging treatments focusing on targeted delivery of therapeutics to weakened areas of the aortic wall, such as nanoparticle-based drug delivery, stem cell therapy, and gene editing techniques like CRISPR-Cas9, show promise in strengthening the aortic wall and halting aneurysm progression. By validating advanced screening modalities and developing targeted treatments, the future management of AAA aims to reduce unnecessary surgeries, prevent ruptures, and significantly improve patient outcomes.
Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification
O’Neill, Matthew J. , Ng, Chai‐Ann , Aizawa, Takanori , Sala, Luca , Bains, Sahej , Winbo, Annika , Ullah, Rizwan , Shen, Qianyi, Tan, Chek-Ying, Kozek, Krystian A. , Vanags, Loren , Mitchell, Devyn , Shen, Alex , Kashiwa, Asami , Musu, Giulia , Bos, J. Martijn , Giudicessi, John R. , Bledsoe, Xavier , Gamazon, Eric R. , Glazer, Andrew M. , Roden, Dan M. , Stiles, Rachael, Agee, Taylor , Johnson, Christopher N. , Ackerman, Michael J. , Ohno, Seiko , Vandenberg, Jamie I. , Kroncke, Brett M. , Kozek, Krystian , Mitchell, Devyn W , Wada, Yuko , Kashiwa, Asami , Crotti, Lia , Dagradi, Federica , Spazzolini, Carla , Neves, Raquel Almeida Lopes , Bos, Johan M , Giudicessi, J R , Bledsoe, Xavier , Lancaster, Megan C , Glazer, Andrew M , Knollmann, Bjorn C , Salem, Joe-Elie , Earle, Nikki , Agee, Taylor , Johnson, Christopher N , Horie, Minoru , Skinner, Jonathan R , Ackerman, Michael J , Schwartz, Peter J. , Ohno, Seiko , Vandenberg, Jamie I , Sala, Luca , Bains, Sahej , Wada, Yuko , Dagradi, Federica , Spazzolini, Carla , Neves, Raquel , Roden, Dan M. , Weile, Jochen , Roth, Frederick P. , Salem, Joe‐Elie , Skinner, Jonathan R.

Circulation | September 24, 2024 | Volume: 150 | Issue: 23 | Pages: 1869-1881

10.1161/circulationaha.124.069828 | PMID 39315434 Get It

BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by KCNH2 . Variant classification is difficult, often because of lack of functional data. Moreover, variant-based risk stratification is also complicated by heterogenous clinical data and incomplete penetrance. Here we sought to test whether variant-specific information, primarily from high-throughput functional assays, could improve both classification and cardiac event risk stratification in a large, harmonized cohort of KCNH2 missense variant heterozygotes. METHODS: We quantified cell-surface trafficking of 18 796 variants in KCNH2 using a multiplexed assay of variant effect (MAVE). We recorded KCNH2 current density for 533 variants by automated patch clamping. We calibrated the strength of evidence of MAVE data according to ClinGen guidelines. We deeply phenotyped 1458 patients with KCNH2 missense variants, including QTc, cardiac event history, and mortality. We correlated variant functional data and Bayesian long QT syndrome penetrance estimates with cohort phenotypes and assessed hazard ratios for cardiac events. RESULTS: Variant MAVE trafficking scores and automated patch clamping peak tail currents were highly correlated (Spearman rank-order ρ=0.69; n=433). The MAVE data were found to provide up to pathogenic very strong evidence for severe loss-of-function variants. In the cohort, both functional assays and Bayesian long QT syndrome penetrance estimates were significantly predictive of cardiac events when independently modeled with patient sex and corrected QT interval (QTc); however, MAVE data became nonsignificant when peak tail current and penetrance estimates were also available. The area under the receiver operator characteristic curve for 20-year event outcomes based on patient-specific sex and QTc (area under the curve, 0.80 [0.76–0.83]) was improved with prospectively available penetrance scores conditioned on MAVE (area under the curve, 0.86 [0.83–0.89]) or attainable automated patch clamping peak tail current data (area under the curve, 0.84 [0.81–0.88]). CONCLUSIONS: High-throughput KCNH2 variant MAVE data meaningfully contribute to variant classification at scale, whereas long QT syndrome penetrance estimates and automated patch clamping peak tail current measurements meaningfully contribute to risk stratification of cardiac events in patients with heterozygous KCNH2 missense variants.
In Response
Milam, Adam J. , Vandenberg, Megan, Kraus, Molly, Milam, Adam J , Vandenberg, Megan, Kraus, Molly B.

Anesthesia & Analgesia | January 12, 2024 | Volume: 138 | Issue: 2 | Pages: e11-e12

10.1213/ane.0000000000006798 | PMID 38215723 Get It

Pediatric Knee Arthroscopy: The Basics of Pediatric Knee Arthroscopy from a Collection of Pediatric Sports Medicine Experts
Kirby, Julia, Johnson, B. Lamar , Millewski, Matt, Shea, Kevin G. , Beck, Jennifer J. , Milbrandt, Todd A. , Pace, Lee, Vandenberg, Curt, Tompkins, Marc , Gamble, James G. , Ganley, Ted, Ellis, Henry B. , Milbrandt, Todd, Ellis, Henry B , Millewski, Matthew, Wilson, Philip L. , Schmitz, Matthew R. , Edmonds, Eric W. , Yen, Yi‐Meng

Video Journal of Sports Medicine | August 1, 2023 | Volume: 3 | Issue: 4 | Pages: No page available

10.1177/26350254231168160 | PMID 40308682 Get It

Background/Objective: To share technical pearls of a basic knee arthroscopy in a pediatric patient by presenting tips and tricks used by experienced pediatric arthroscopists. Indications: Knee arthroscopy is a common procedure performed by most orthopedic surgeons. However, technical considerations and equipment should be considered before performing this procedure in a pediatric patient. This video provides information on indications, equipment, and patient positioning, as well as outlining a systematic approach to diagnostic arthroscopy and pertinent pediatric anatomy. Discussion/Conclusion: This video provides an excellent overview as well as specific pathology-dependent considerations for the inexperienced orthopedic surgeon, or the orthopedic surgeon who rarely performs knee arthroscopy. Patient Consent Disclosure Statement: The author(s) attests that consent has been obtained from any patient(s) appearing in this publication. If the individual may be identifiable, the author(s) has included a statement of release or other written form of approval from the patient(s) with this submission for publication.
Racial Disparities in Compensation Among US Anesthesiologists: Results of a National Survey of Anesthesiologists
Vandenberg, Megan T., Misra, Lopa , Hertzberg, Linda B., Buckner‐Petty, Skye , Padmanabhan, Asha, Milam, Adam J. , Kraus, Molly, Buckner-Petty, Skye, Milam, Adam J , Kraus, Molly B. , Tollinche, Luis Etienne

Anesthesia & Analgesia | April 25, 2023 | Volume: 137 | Issue: 2 | Pages: 268-276

10.1213/ane.0000000000006484 | PMID 37097908 Get It

BACKGROUND: A racial compensation disparity among physicians across numerous specialties is well documented and persists after adjustment for age, sex, experience, work hours, productivity, academic rank, and practice structure. This study examined national survey data to determine whether there are racial differences in compensation among anesthesiologists in the United States. METHODS: In 2018, 28,812 active members of the American Society of Anesthesiologists were surveyed to examine compensation among members. Compensation was defined as the amount reported as direct compensation on a W-2, 1099, or K-1, plus all voluntary salary reductions (eg, 401[k], health insurance). Covariates potentially associated with compensation were identified (eg, sex and academic rank) and included in regression models. Racial differences in outcome and model variables were assessed via Wilcoxon rank sum tests and Pearson’s χ 2 tests. Covariate adjusted ordinal logistic regression estimated an odds ratio (OR) for the relationship between race and ethnicity and compensation while adjusting for provider and practice characteristics. RESULTS: The final analytical sample consisted of 1952 anesthesiologists (78% non-Hispanic White). The analytic sample represented a higher percentage of White, female, and younger physicians compared to the demographic makeup of anesthesiologists in the United States. When comparing non-Hispanic White anesthesiologists with anesthesiologists from other racial and ethnic minority groups, (ie, American Indian/Alaska Native, Asian, Black, Hispanic, and Native Hawaiian/Pacific Islander), the dependent variable (compensation range) and 6 of the covariates (sex, age, spousal work status, region, practice type, and completed fellowship) had significant differences. In the adjusted model, anesthesiologists from racial and ethnic minority populations had 26% lower odds of being in a higher compensation range compared to White anesthesiologists (OR, 0.74; 95% confidence interval [CI], 0.61–0.91). CONCLUSIONS: Compensation for anesthesiologists showed a significant pay disparity associated with race and ethnicity even after adjusting for provider and practice characteristics. Our study raises concerns that processes, policies, or biases (either implicit or explicit) persist and may impact compensation for anesthesiologists from racial and ethnic minority populations. This disparity in compensation requires actionable solutions and calls for future studies that investigate contributing factors and to validate our findings given the low response rate.