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The journey to building a diverse, equitable, and inclusive American Medical Informatics Association
Bright, Tiffani J , Walk, Oliver J. Bear Don’t , Johnson, Cheyenne , Petersen, Carolyn , Martin, Krista, Walters-Threat, Lois, Craven, Catherine K. , Lucero, Robert , Bear Don't Walk Iv, Oliver J , Johnson, Carl Erwin , Craven, Catherine K , Rizvi, Rubina F , Petersen, Carolyn , Dykes, Patricia C. , Johnson, Kevin B. , Jackson, Gretchen Purcell

Mayo Clinic

Journal of the American Medical Informatics Association | October 12, 2024 | Volume: 32 | Issue: 1 | Pages: 3-8

10.1093/jamia/ocae258 | PMID 39394736 Get It

Abstract Objective The American Medical Informatics Association (AMIA) Task Force on Diversity, Equity, and Inclusion (DEI) was established to address systemic racism and health disparities in biomedical and health informatics, aligning with AMIA’s mission to transform healthcare. AMIA’s DEI initiatives were spurred by member voices responding to police brutality and COVID-19’s impact on Black/African American communities. Materials and Methods The Task Force, consisting of 20 members across 3 groups aligned with AMIA’s 2020-2025 Strategic Plan, met biweekly to develop DEI recommendations with the help of 16 additional volunteers. These recommendations were reviewed, prioritized, and presented to the AMIA Board of Directors for approval. Results In 9 months, the Task Force (1) created a logic model to support workforce diversity and raise AMIA’s DEI awareness, (2) conducted an environmental scan of other associations’ DEI activities, (3) developed a DEI framework for AMIA meetings, (4) gathered member feedback, (5) cultivated DEI educational resources, (6) created a Board nominations and diversity session, (7) reviewed the Board’s Strategic Planning for DEI alignment, (8) led a program to increase diversity at the 2020 AMIA Virtual Annual Symposium, and (9) standardized socially-assigned race and ethnicity data collection. Discussion The Task Force proposed actionable recommendations that focused on AMIA’s role in addressing systemic racism and health equity, helping the organization understand its member diversity. Conclusion This work supported marginalized groups, broadened the research agenda, and positioned AMIA as a DEI leader while reinforcing the need for ongoing transformation within informatics.
Revisiting the superficial parasternal intercostal plane block: a response to Dost et al
Harbell, Monica W. , Seamans, David P. , Craner, Ryan C., Nelson, James A. , Harbell, Monica W , Craner, Ryan, Langley, Natalie R. , Nelson, James A

Mayo Clinic

Regional Anesthesia & Pain Medicine | October 12, 2024 | Volume: 51 | Issue: 3 | Pages: 369-369

10.1136/rapm-2024-106053 | PMID 39395836 Get It

Comparing Recurrence Rates and the Cost-Effectiveness of Arthroscopic Labral Repair and Nonoperative Management for Primary Anterior Shoulder Dislocations in Young Patients: A Decision-Analytic Markov Model-Based Analysis
Oeding, Jacob F. , Schulz, William R., Wang, Allen S. , Krych, Aaron J. , Taylor, Dean C. , Samuelsson, Kristian , Camp, Christopher L. , Krych, Aaron J , Wang, Allen , Samuelsson, Kristian , Oeding, Jacob F , Schulz, William R., Tagliero, Adam J.

Mayo Clinic

The American Journal of Sports Medicine | October 12, 2024 | Volume: 52 | Issue: 13 | Pages: 3339-3348

10.1177/03635465241282342 | PMID 39394775 Get It

Background: Value-based decision-making regarding nonoperative management versus early surgical stabilization for first-time anterior shoulder instability (ASI) events remains understudied. Purpose: To perform (1) a systematic review of the current literature and (2) a Markov model–based cost-effectiveness analysis comparing an initial trial of nonoperative management to arthroscopic Bankart repair (ABR) for first-time ASI. Study Design: Economic and decision analysis; Level of evidence, 3. Methods: A Markov chain Monte Carlo probabilistic model was developed to evaluate the outcomes and costs of 1000 simulated patients (mean age, 20 years; range, 12-26 years) with first-time ASI undergoing nonoperative management versus ABR. Utility values, recurrence rates, and transition probabilities were derived from the published literature. Costs were determined based on the typical patient undergoing each treatment strategy at the authors’ institution. Outcome measures included costs, quality-adjusted life-years (QALYs), and the incremental cost-effectiveness ratio (ICER). Results: The Markov model with Monte Carlo microsimulation demonstrated mean (± standard deviation) 10-year costs for nonoperative management and ABR of $38,649 ± $10,521 and $43,052 ± $9352, respectively. Total QALYs acquired over the 10-year time horizon were 7.67 ± 0.43 and 8.44 ± 0.46 for nonoperative management and ABR, respectively. The ICER comparing ABR with nonoperative management was found to be just $5725/QALY, which falls substantially below the $50,000 willingness-to-pay (WTP) threshold. The mean numbers of recurrences were 2.55 ± 0.31 and 1.17 ± 0.18 for patients initially assigned to the nonoperative and ABR treatment groups, respectively. Of 1000 samples run over 1000 trials, ABR was the optimal strategy in 98.7% of cases, with nonoperative management the optimal strategy in 1.3% of cases. Conclusion: ABR reduces the risk for recurrent dislocations and is more cost-effective despite higher upfront costs when compared with nonoperative management for first-time ASI in the young patient. While all these factors are important to consider in surgical decision-making, ultimate treatment decisions should be made on an individual basis and occur through a shared decision-making process.
High-Density Lipoprotein Mimetic Peptide 4F Reduces Toxic Amyloid-Beta Exposure to the Blood-Brain Barrier Endothelium in Alzheimer’s Disease Transgenic Mice
Wang, Zengtao , Zhong, Rui , Curran, Geoffry L., Min, Hoon‐Ki , Lowe, Val J. , Kandimalla, Karunya K. , Min, Paul, Kandimalla, Karunya K , Min, Hoon-Ki Paul , Li, Ling

Mayo Clinic

Molecular Pharmaceutics | October 12, 2024 | Volume: 21 | Issue: 11 | Pages: 5661-5671

10.1021/acs.molpharmaceut.4c00633 | PMID 39394037 Get It

Incidence of revision surgery and patient-reported outcomes within 5 years of the index procedure for grade 1 spondylolisthesis: an analysis from the Quality Outcomes Database spondylolisthesis data
Birlingmair, Jacob, Djurasovic, Mladen, Mummaneni, Praveen V. , Asher, Anthony L. , Bisson, Erica F. , Bydon, Mohamad , Chan, Andrew K. , Chou, Dean , Coric, Domagoj , Foley, Kevin T. , Fu, Kai-Ming, Haid, Regis W., Knightly, John J. , Le, Vivian , Potts, Eric A. , Shaffrey, Christopher I. , Shaffrey, Mark E., Slotkin, Jonathan R., Virk, Michael S. , Wang, Michael Y. , Glassman, Steven D. , Carreon, Leah Y. , Park, Paul

Mayo Clinic

Journal of Neurosurgery: Spine | October 12, 2024 | Volume: No volume available | Issue: No issue available | Pages: 1-6

10.3171/2024.6.spine24488 | PMID 39393106 Get It

OBJECTIVE Some patients treated surgically for grade 1 spondylolisthesis require revision surgery. Outcomes after revision surgery are not well studied. The objective of this study was to determine how revision surgery impacts patient-reported outcomes (PROs) in patients undergoing decompression only or decompression and fusion (D+F) for grade 1 spondylolisthesis within 5 years of the index surgery. METHODS Patients in the 12 highest Quality Outcomes Database (QOD) enrolling sites with a diagnosis of grade 1 spondylolisthesis were identified and the incidence of revision surgery between the decompression-only and D+F patients were compared. PROs were compared between cohorts requiring revision surgery versus a single index procedure. RESULTS Of 608 patients enrolled, 409 had complete 5-year data available for this study. Eleven (13.3%) of 83 patients underwent revision in the decompression-only group as well as 32 (9.8%) of 326 in the D+F group. For the entire cohort, patients requiring revision had significantly worse PROs at 5 years: Oswestry Disability Index (ODI) 27.4 versus 19.4, p = 0.008; numeric rating scale for back pain (NRS-BP) 4.1 versus 3.0, p = 0.013; and NRS for leg pain (NRS-LP) 3.4 versus 2.1, p = 0.029. In the decompression-only group, the change in 5-year PROs was not impacted by revision status: ODI 31.9 versus 24.2, p = 0.287; NRS-BP 1.9 versus 2.9, p = 0.325; and NRS-LP 6.2 versus 3.7, p = 0.011. In the D+F group, the change in 5-year PROs was diminished if patients required revision: ODI 19.1 versus 29.1, p = 0.001; NRS-BP 3.0 versus 4.0, p = 0.170; and NRS-LP 2.3 versus 4.6, p = 0.001. CONCLUSIONS The most common reasons for reoperation within 5 years in the decompression-only group were repeat decompression and instability, whereas in the D+F group the most common reason was adjacent-segment disease. The need for revision resulted in modestly diminished benefit compared with patients with no revisions. These differences were greater in the fusion cohort compared with the decompression-only cohort. The mean PRO improvement still far exceeded minimal clinically important difference thresholds for all measures for patients who underwent a revision surgery.
Defining ideal middle cerebral artery bifurcation aneurysm size for Woven EndoBridge embolization
Adeeb, Nimer , Aslan, Assala , Alla, Anika, McLellan, Rachel , Lay, Sovann V. , Guenego, Adrien , Renieri, Leonardo, Premat, Kévin, Möhlenbruch, Markus, Kral, Michael , Doron, Omer , Salem, Mohamed M. , Foreman, Paul M. , Vachhani, Jay A. , Shaikh, Hamza , Župančić, Vedran , Tutino, Vincent M., Mohammed, Marwa A. , Özateş, Mehmet Özgür , Ayberk, Gıyas , Rabinov, James D. , Ren, Yifan , Michelozzi, Caterina , Elens, Stéphanie , Starke, Robert M, Ogilvie, Mark , Nguyên, Anh , Jones, Jesse , Brinjikji, Waleed , Nawka, Marie Teresa , Psychogios, Marios, Ulfert, Christian , Diestro, Jose Danilo Bengzon , Pukenas, Bryan , Burkhardt, Jan‐Karl , Sheth, Sunil G. , Spiegel, Gary, Lubicz, Boris , Puri, Ajit S , Pero, Guglielmo , Nossek, Erez , Raz, Eytan , Killer-Oberfalzer, Monika, Asadi, Hamed , Brook, Allan , Altschul, David , Ducruet, Andrew F. , Albuquerque, Felipe C. , Regenhardt, Robert W. , Stapleton, Christopher J. , Kan, Peter , Kalousek, Vladimir , Lylyk, Pedro , Boddu, Srikanth , Knopman, Jared , Tjoumakaris, Stavropoula , Clarençon, Frédéric , Cuellar-Saenz, Hugo H., Jabbour, Pascal , Patel, Aman B. , Tutino, Vincent M. , Ibrahim, Mohamed K. , Diestro, Jose Danilo B , Shotar, Eimad , Tutino, Vincent M , Nguyen, Anh , Pero, Guglielmo , Kalousek, Vladimir , Altschul, David J , Regenhardt, Robert W , Ulfert, Christian , Lay, Sovann V , Burkhardt, Jan‐Karl , Musmar, Basel , Salim, Hamza , Cancelliere, Nicole M , Algin, Oktay , Ghozy, Sherief , Dibas, Mahmoud , Renieri, Leonardo , Carnevale, Joseph Anthony , Saliou, Guillaume , Mastorakos, Panagiotis , Naamani, Kareem El , Shotar, Eimad , Premat, Kévin , Möhlenbruch, Markus , Chung, Charlotte , Lylyk, Iván , Hafeez, Muhammad Ubaid , Catapano, Joshua S , Waqas, Muhammad , Schirmer, Clemens M. , Piano, Mariangela , Kühn, Anna Luisa , Hassan, Ameer E , Psychogios, Marios‐Nikos , Domingo, Ricardo A. , Huynh, Thien , Martinez-Gutierrez, Juan Carlos , Essibayi, Muhammed Amir , Sheth, Sunil A., Tawk, Rabih G. , Panni, Pietro , Griessenauer, Christoph J. , Siddiqui, Adnan H. , Aziz‐Sultan, Mohammad Ali , Limbucci, Nicola , Cuellar, Hugo , Jabbour, Pascal , Mendes Pereira, Vitor , Dmytriw, Adam A.

Mayo Clinic

Journal of Neurosurgery | October 12, 2024 | Volume: No volume available | Issue: No issue available | Pages: 1-11

10.3171/2024.5.jns232204 | PMID 39393093 Get It

OBJECTIVE The Woven EndoBridge (WEB) device was approved to treat wide-necked bifurcation aneurysms. The device is designed as an intrasaccular flow disruptor covering aneurysm widths up to 10 mm. Although prior studies combined all aneurysm sizes, it is known that aneurysms behave differently in response to endovascular treatment based on their size. Therefore, the authors’ objective was to identify ideal middle cerebral artery (MCA) aneurysm width and neck sizes most suitable for WEB treatment. METHODS The WorldWideWEB consortium is a large multicenter retrospective database that analyzes intracranial aneurysms treated with the WEB device. In this study, all unruptured MCA bifurcation aneurysms with available measurements were included. Cutoff values based on aneurysm width and neck in relation to aneurysm occlusion status were measured using the receiver operating characteristic (ROC) curve. Propensity score matching (PSM) was then used to compare treatment outcomes between aneurysms smaller and larger than the cutoff value for both width and neck size. RESULTS The ideal cutoff values for MCA bifurcation aneurysm width and neck were 6.1 mm and 4.6 mm, respectively. On PSM, 87 matched pairs were compared based on width size (≤ 6.1 mm and > 6.1 mm), and 77 matched pairs were compared based on neck size (≤ 4.6 mm and > 4.6 mm). There was a significant difference in adequate aneurysm occlusion between aneurysms smaller and larger than those cutoff values for both widths (93% vs 76%, p = 0.0017) and neck sizes (90% vs 70%, p = 0.0026). The retreatment rate was also significantly higher for larger aneurysms in both parameters. CONCLUSIONS This study shows that MCA bifurcation aneurysms ≤ 6.1 mm in width and ≤ 4.6 mm in neck size are significantly better candidates for WEB treatment, leading to improved occlusion status and reduced retreatment rate, which are important considerations when using WEB devices.
Conservative management of brain arteriovenous malformations: results of the prospective observation registry of a pragmatic trial
Gentric, Jean-Christophe, Heppner, Jonathan, Lopez, Camille, Jabre, Roland , Bojanowski, Michel W. , Chaalala, Chiraz , Januel, Anne-Christine, Sabatier, Jean-François, Desal, Hubert, Roualdes, Vincent , Alias, Quentin , Derrey, Stéphane , Gaberel, Thomas , Barbier, Charlotte , Barreau, Xavier , Anxionnat, René , Merlot, Isabelle, Nguyen, Thanh N., Abdalkader, Mohamad , Riva, Roberto, Troude, Lucas, Ollivier, Irène , Planty-Bonjour, Alexia, Chalumeau, Vanessa, Naggara, Olivier, Lefevre, Pierre-Henri, Corre, Marine Le, Carlson, Andrew P. , Thines, Laurent, Findlay, J. Max, Chabert, Emmanuel , Zehr, Justine , Klink, Ruby , Viard, Geraldine, Magro, Elsa, _, _, Raymond, Jean , Chow, Michael M. C., Findlay, J. Max , Lesiuk, Howard , Drake, Brian , Santos, Marlene dos, Lopez, Camille, Ognard, Julien, Seizeur, Romuald, Pradier, Olivier, Boursier, Romain, Thillays, F. , Januel, Anne-Christine , Sabatier, Jean-François, Calvière, Lionel , Gauvrit, Jean‐Yves , Eugene, François, Boucherit, Julien , Lecouillard, Isabelle, Briens, Aurélien, Ronzière, Thomas , Trystram, D. , Naggara, Olivier , Emery, Évelyne , Pellisou-Guyotat, Isabelle, Guyotat, Jacques, Berhouma, Monsef, Bougaci, Nassim , Bracard, Serge, Civit, Thierry, Bernier‐Chastagner, Valérie , Penchet, Guillaume, Gimbert, Edouard, Huchet, Aymeri, Herbreteau, Denis , Bibi, Richard , Ifergan, Héloïse , Janot, Kévin, Brunel, Hervé, Roche, Pièrre-Hugues , Peyrière, Hadrien, Kaya, Jean-Marc, Touta, Adamou, Boissonneau, Sébastien , Clarençon, Frédéric , Premat, Kévin, Boch, Anne‐Laure , Cornu, Philippe, Nouet, Aurélien , Costalat, Vincent , Gascou, Gregory, Riquelme, Carlos, Pop, Raoul, Proust, François, Cébula, H. , Spatola, Giorgio, Ikka, Léon , Ozanne, Augustin , Caroff, Jildaz , Rouchaud, Aymeric, Caire, François, Ricolfi, F. , Thouant, Pierre, Cao, Catherine, Mourier, Klaus-Luc, Farah, Walid, Silva, Luciana Alves Oliveira, Froio, Nayara de Lima, Mont’Alverne, Francisco J. A., Martins, Jose Luri, Miranda, Rodrigo Rivera, Rivera, Rodrigo , Ognard, Julien , Shotar, Eimad , Ognard, Julien , Darsaut, Tim E. , Iancu, Daniela , Roy, Daniel C. , Weill, Alain , Comby, Pierre‐Olivier , Roberge, David , Cognard, Christophe , Desal, Hubert , Ferré, Jean‐Christophe , Papagiannaki, Chrysanthi , Smajda, Stanislas , Aldéa, Sorin , Marnat, Gaultier , Jecko, Vincent , Dumot, Chloé , Riva, Roberto , Graillon, Thomas , Troude, Lucas , Kerleroux, Basile , Beaujeux, Rémy , Boulouis, Grégoire , Spelle, Laurent , Chalumeau, Vanessa , Lefèvre, Pierre-Henri , Corre, Marine Le, Shotar, Eimad , Biondi, Alessandra , Tawk, Rabih G. , Huynh, Thien , Fahed, Robert , Gévry, Guylaine , _, _, O'Kelly, Cian J , Rempel, Jeremy L , Santos, Marlene dos, Gentric, Jean‐Christophe , Lopez, Camille, Nonent, Michel , Aouni, Mourad Cheddad El , Timsit, Serge , Piotin, Michel , Blanc, Raphaël , Morandi, Xavier , Vannier, Stéphane , Rodriguez-Régent, Christine , Touzé, Emmanuel , Eker, Omer , Charbonnier, Guillaume , Gory, Benjamin , Velut, Stéphane , Sourour, Nader Antoine , Lenck, Stéphanie , Premat, Kévin , Bonafé, Alain , Dargazanli, Cyril , Gascou, Grégory , Corre, Marine Le, Gallas, Sophie , Mihalea, Cristian , Mounayer, Charbel , Thouant, Pierre , Nguyen, Thanh N. , Silva, Gisele Sampaio , Montalverne, Francisco Jose , Mendes, George Nilton Nunes

Mayo Clinic

Journal of Neurosurgery | October 12, 2024 | Volume: No volume available | Issue: No issue available | Pages: 1-10

10.3171/2024.5.jns24623 | PMID 39393100 Get It

OBJECTIVE Many patients recruited in the Treatment of Brain Arteriovenous Malformations Study (TOBAS) are managed conservatively. The aim of this study was to monitor what happened to those patients. METHODS TOBAS comprises two randomized controlled trials and multiple prospective registries. All patients with brain arteriovenous malformations (AVMs) can participate. This report concerns patients selected for conservative management. The primary trial outcome measure is related death or dependency (modified Rankin Scale [mRS] score > 2) at 10 years. Secondary outcomes include intracranial hemorrhages, nonhemorrhagic neurological events, and serious adverse events (SAEs). For this report, outcome results are presented using patient-years, Kaplan-Meier survival curves, and Cox log-rank tests. There was no blinding. RESULTS From June 2014 to May 2021, 1010 patients were recruited, of whom 498 (49%) were proposed the prospective observation registry. After exclusions, 434 (87%) patients remained for analysis. The majority of patients had unruptured AVMs (378/434 [87%]), of which 195 (52%) were low grade (Spetzler-Martin grade I or II). During a mean follow-up period of 3.2 years (total 1368 patient-years), the primary outcome occurred in 23 of 434 (5%) patients, corresponding to an incidence of 1.7 (95% CI 1.1–2.5) per 100 patient-years. For unruptured AVMs the incidence was 1.1 (95% CI 0.7–1.9) per 100 patient-years, and for low-grade unruptured AVMs it was 0.6 (95% CI 0.2–1.7) per 100 patient-years. Poor outcomes were more frequent in patients with a history of rupture (HR 5.6 [95% CI 2.4–13.0], p < 0.001), infratentorial AVMs (HR 2.9 [95% CI 1.1–7.3], p = 0.027), and age ≥ 55 years (HR 3.2 [95% CI 1.4–7.6], p = 0.007). Major intracranial hemorrhage occurred in 35 of 434 (8%) patients (incidence of 2.6 [95% CI 1.9–3.6] per 100 patient-years; 2.0 [95% CI 1.3–2.9] per 100 patient-years for unruptured AVMs and 1.3 [95% CI 0.6–2.6] per 100 patient-years for low-grade unruptured AVMs). Major AVM hemorrhages were more frequent in ruptured (HR 4.4 [95% CI 2.1–8.9], p < 0.001), large (HR 2.6 [95% CI 1.1–6.6], p = 0.039), and high-grade (HR 2.5 [95% CI 1.2–5.3], p = 0.013) AVMs and those with deep venous drainage (HR 2.1 [95% CI 1.1–4.2], p = 0.032). SAEs occurred in 48 of 434 (11%) patients (incidence of 3.6 [95% CI 2.7–4.8] per 100 patient-years). For unruptured AVMs the incidence was 2.8 (95% CI 2.0–4.0) per 100 patient-years, and for low-grade unruptured AVMs it was 1.8 (95% CI 1.0–3.2) per 100 patient-years. CONCLUSIONS Nearly half of TOBAS participants were observed. Rates of untoward neurological events were within expected boundaries.
An Updated Evaluation of the Management of Nerve Gaps: Autografts, Allografts, and Nerve Transfers
Johnson, Anna Rose , Said, Abdullah M., Acevedo, Jesús F. , Taylor, R. W., Wu, Kitty Y. , Ray, Wilson Z. , Patterson, J. Megan M. , Mackinnon, Susan E., Mackinnon, Susan E. , Wu, Kitty, Acevedo, Jesus

Mayo Clinic

Seminars in Neurology | October 11, 2024 | Volume: 45 | Issue: 01 | Pages: 157-175

10.1055/s-0044-1791665 | PMID 39393799 Get It

AbstractWithin the past decade, there have been multiple innovations in the field of nerve surgery. In this review, we highlight critical changes and innovations that have helped advance the field and present opportunities for further study. This includes the modification and clarification of the classification schema for nerve injuries which informs prognosis and treatment, and a refined understanding and application of electrodiagnostic studies to guide patient selection. We provide indications for operative intervention based on this nerve injury classification and propose strategies best contoured for varying injury presentations at differing time points. Lastly, we discuss new developments in surgical techniques and approaches based on these advancements.
Propofol, Triglycerides, and Acute Pancreatitis: A Multicenter Epidemiologic Analysis
Heybati, Kiyan , Deng, Jiawen , Xie, Guozhen , Poudel, Keshav , Zhou, Fangwen , Rizwan, Zeeshan, Brown, Caitlin S. , Acker, Christopher T, Yadav, Hemang , Yadav, Hemang , Deng, J , Zhou, F , Rizwan, Zeeshan M , Gajic, Ognjen

Mayo Clinic

Annals of the American Thoracic Society | October 11, 2024 | Volume: 22 | Issue: 2 | Pages: 235-246

10.1513/annalsats.202407-781oc | PMID 39393346 Get It

Abstract Rationale Propofol is one of the first-line sedative-hypnotic agents for critically ill adults requiring mechanical ventilation. Although propofol can elevate triglyceride levels, and the latter is a risk factor for pancreatitis, the association between propofol and acute pancreatitis is unclear. Objectives We sought to determine the clinical impact and potential associations between propofol infusion, hypertriglyceridemia, and acute pancreatitis. Methods This is an observational multicenter study of adults (⩾18 yr old) who were admitted to an intensive care unit, who required mechanical ventilation and received continuous propofol infusion for at least 24 hours. The primary outcomes were the frequency of hypertriglyceridemia (&gt;400 mg/dl) and acute pancreatitis. Further analyses were done to determine the clinical impact of elevated triglyceride levels (i.e., sedation changes) and risk factors for pancreatitis development. Results Of 11,828 patients included, 33.2% (n = 3,922) had triglyceride levels measured, of whom 21.7% (n = 851) had hypertriglyceridemia at 4.5 days (SD = 6.8) after propofol initiation. Of those still requiring sedation, 70.4% (n = 576/818) received alternative sedatives after developing hypertriglyceridemia. Pancreatitis occurred in 1.2% of patients (n = 47/3,922) and was more frequent in those with hypertriglyceridemia (3.2%, 27/851; vs. 0.7%, 20/3,071; P &lt; 0.001). After adjustment for potential confounding variables, each 100 mg/dl increase in triglyceride levels was associated with an 11% increase in risk of pancreatitis. Propofol dose was not associated with pancreatitis development. Conclusions Acute pancreatitis is uncommon in patients receiving propofol infusion, and it occurs over a wide range of triglyceride levels, indicating a multifactorial pathophysiology. Hypertriglyceridemia frequently prompts the use of alternative sedatives. Further study is needed to determine how to best monitor and treat hypertriglyceridemia in critically ill patients receiving propofol infusion.
A Review of Multiple Diagnostic Approaches in the Undiagnosed Diseases Network to Identify Inherited Metabolic Diseases
Furuta, Yutaka , Tinker, Rory J. , Hamid, Rizwan , Ezell, Kimberly , Oglesbee, Devin , DeBerardinis, Ralph J., Phillips, John A., Oglesbee, Devin , Tinker, R J , Cogan, Joy D. , DeBerardinis, Ralph J. , Phillips, John A., Network, the Undiagnosed Diseases

Mayo Clinic

No container title available | October 11, 2024 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.21203/rs.3.rs-4588411/v1 Get It

Abstract Background The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS). However, a substantial proportion of IMDs remain undetected by traditional diagnostic approaches. We aim to highlight the spectrum of IMDs diagnosed by the Undiagnosed Diseases Network (UDN) and to learn from the UDN diagnostic processes that were able to detect IMDs. Methods We conducted a retrospective analysis of 757 UDN participants diagnosed from 2015 until 2023 using the cohort database, which were divided into a cohort with IMDs (n = 194; 27%) and a cohort whose phenotypes were not explained by an IMD (n = 563; 73%), based on the International Classification of Inherited Metabolic Disorders (ICIMD). Then, we divided the causes of the metabolic 194 diagnoses into seven groups that included all the ICIMD categories. We inspected which clinical and laboratory approaches contributed to a final UDN diagnosis. We also present a UDN case example from each group to highlight the diagnostic yields that resulted from combining newer diagnostic approaches in the UDN and illustrate potential pitfalls of current NGS methods. Results These 194 cases of IMDs included examples from 21/25 (84%) of the ICIMD categories. Of the UDN subjects 164/194 (85%) were diagnosed with IMDs through NGS. Conclusion The spectrum of IMDs detected in the UDN cohort is large and growing and appropriate use of newer multiple diagnostic approaches should further increase diagnosis of IMDs that are presently missed by the traditional laboratory screening methods.