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1581 citation(s) found for "Wu, Kelly L".

Rapid diagnosis of fever etiology using wearable temperature monitoring and machine learning
Khan, Shihan N., Ren, X., Wittrup, Emily, Madhukar, Rashmi, Flora, Christopher , Mayhew, Kelly, Rozwadowski, Michelle, Winnega, Eric, Leopold, Kay, Paludo, Jonas, Binder, Adam F., Ghosh, Monalisa, Frame, David, Craig, Erin, Braun, Thomas , Sung, Anthony D., Choi, Sung Won, Tewari, Muneesh , Choi, Sung Won , Choi, Sung Won , Lee, Seungwoo , Wittrup, Emily M. , Rozwadowski, Michelle , Leopold, Kay E., Weinberg, Jason B. , Paludo, Jonas , Binder, Adam Finn , Ghosh, Monalisa , Chanderraj, Rishi , Sung, Anthony D. , Najarian, Kayvan

No container title available | July 28, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.64898/2026.07.27.26359010 | PMID 42620146 Get It

Abstract Introduction Distinct temperature patterns have long been recognized to correlate with fevers of differing etiologies. While the use of wearable sensors for high-frequency temperature monitoring (HFTM) on a near minute-by-minute basis has been shown to detect fevers earlier than standard-of-care nursing vital sign assessments in hospitalized patients, leveraging these high-resolution datasets to computationally identify unique digital signatures for real-time diagnosis of underlying fever etiology has not been widely explored. Diagnostic uncertainty is common in patients undergoing hematopoietic stem cell transplantation (HCT), with only 20–30% of febrile neutropenic episodes being microbiologically documented. We hypothesized that unique temperature patterns extracted from HFTM data collected during episodes of febrile neutropenia could be used to develop a supervised machine learning classifier capable of accurately predicting underlying fever etiology in HCT patients. Methods We analyzed 68 clinically independent fever episodes recorded in HCT patients (n=90) outfitted with an FDA-cleared wireless temperature sensor (TempTraq®, BlueSpark Technologies) that measured axillary temperature every 2 minutes throughout hospitalization. Time-series features were extracted from temperature traces spanning 1 hour before to 3 hours after fever onset and used to train a suite of machine-learning models to distinguish engraftment fevers from other fever etiologies. Model training and evaluation were performed using repeated stratified 5-fold patient-level cross-validation, yielding 100 train-test evaluations. Results Among all classification models, the logistic regression classifier provided the best overall performance and interpretability, achieving 94% specificity (95% CI, 0.84–1.0) for identifying engraftment fevers with a mean AUROC of 0.88 ± 0.10. Feature importance analysis demonstrated that both clinical variables and HFTM-derived temperature dynamics contributed to model performance, with a strong reliance on time-series features captured within the first 4 hours of fever onset. Conclusion Our study provides a demonstration that continuous temperature data collected from patients outfitted with wearable sensors can be leveraged not only for early fever detection but also for machine learning–based diagnosis of fever etiology. These findings suggest that dynamic temperature patterns contain clinically meaningful physiologic information that with further studies could support real-time diagnostic decision-making and guide safe de-escalation of empiric antibiotics during febrile neutropenia in patients undergoing intensive cancer therapy.
Identification of the Novel HLA‐C*03:760 Allele by Next‐Generation Sequencing
Du, Zeying , Sudario, Ma Easter April, Cussen, K, Elrefaei, Mohamed, Cussen, Kelly , Elrefaei, Mohamed , Sudario, Ma. Easter April , Elrefaei, Mohamed

HLA | July 26, 2026 | Volume: 108 | Issue: 1 | Pages: No page available

10.1111/tan.70873 | PMID 42503037 Get It

ABSTRACT HLA‐C*03:760 differs from HLA‐C*03:04:01:01 by a single nucleotide substitution in exon 4 at codon 236.
Survival by Race and Ethnicity in Children and Adolescents/Young Adults With Relapsed/Refractory Hodgkin Lymphoma: A Pooled Analysis of Children's Oncology Group Trials
Renfro, Lindsay A., Wu, Yue, Marcotte, Erin, Trippett, T, Horton, Terzah, Keller, Frank G., Forlenza, Chris, Schwartz, Cindy, Kelly, Kara M., Cole, Peter D., Castellino, Sharon M., Kahn, Justine M., Marcotte, Erin L. , Heneghan, Mallorie B. , Crisler, Katia M. , Trippett, Tanya, Horton, Terzah M. , Hoppe, Bradford S. , Keller, Frank G. , Schwartz, Cindy L. , Kelly, Kara M. , Castellino, Sharon M. , Kahn, Justine M

Pediatric Blood & Cancer | July 24, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1002/1545-5017.70522 | PMID 42496647 Get It

ABSTRACT Purpose Despite 5‐year survival rates of over 90% among children and adolescents/young adults (CAYAs) with classic Hodgkin lymphoma (cHL), 15%–20% relapse after frontline therapy. Prior analysis of frontline Children's Oncology Group (COG) clinical trials demonstrated that, despite similar rates of relapse, non‐Hispanic Black (NHB) and Hispanic (vs. non‐Hispanic White [NHW]) patients experienced higher post‐relapse mortality. It is unknown whether post‐relapse disparities persist when second‐line treatment is delivered in a cooperative group trial setting. We examined overall survival (OS) by race and ethnicity in CAYAs enrolled in COG trials for relapsed/refractory (r/r) cHL. Methods A pooled analysis of individual‐level data from CAYAs (≤ 29 years) receiving therapy for r/r cHL on COG clinical trials (2001–2016) was conducted. The Kaplan–Meier method estimated 3‐year OS by racial and ethnic groups. Cox regression models examined associations of race and ethnicity and OS, adjusted for age, insurance, first versus ≥2 relapse, and time from initial diagnosis to relapse trial enrollment. Results Among 175 CAYAs treated on COG trials for r/r cHL (5.7% Asian or Pacific Islander, 14.9% Hispanic, 14.3% NHB, 61.7% NHW, 3.4% other), at median follow‐up of 4.9 years, 3‐year OS was 82.1% (95% confidence interval [CI], 75.3%–87.1%) and did not differ by race and ethnicity ( p = 0.36). In multivariable analyses, shorter time from diagnosis to relapse trial enrollment ( p = 0.01) and ≥2 relapses (vs. first, p = 0.004) conferred worse OS, with no significant effect of race and ethnicity ( p = 0.43). Conclusion Post‐relapse survival did not differ by race and ethnicity among CAYAs enrolled in COG trials for r/r cHL, suggesting access to clinical trials may mitigate OS disparities.
Photon-Counting CT in Pediatric Imaging: Point—Essential to the Future of CT for Children
Horst, Kelly K.

American Journal of Roentgenology | July 22, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.2214/ajr.26.35581 | PMID 42485401 Get It

Clarifying risk-factor associations with quantitative breast tumor features: a pooled analysis of 24 studies
Adams, Daniel , Hurson, Amber N. , Ahearn, Thomas U, Andrulis, Irene L, Antoniou, Antonis C, Auvinen, Päivi, Bane, Anita, González, Amy Berrington de , Bodelon, Clara, Bolla, Manjeet K. , Borrero, Maria , Brenner, Hermann, Brock, Ian W., Camp, Nicola J. , Cessna, Melissa H., Chanock, Stephen J, Chenevix-Trench, G, Copson, ER, Fh, Couch, Devilee, P, Easton, Douglas F, Eccles, Diana, Figueroa, Jonine D, Glendon, Gord, Hamann, U, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette A M, Hodge, James M, Holleczek, Bernd, Hollestelle, A M, Mj, Hooning, Investigators, kConFab, Amor, David, Andrews, Lesley , Antill, Y , Rl, Balleine, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Bodek, Simon, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Caldon, Liz, Campbell, Ian, Chakrabarti, Anannya , Chauhan, Deepa, Chauhan, Manisha, Christian, Alice, Cohen, Paul, Colley, Alison, Cui, James, Courtney, Eliza, Cummings, Margaret, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Duijf, Pascal, Edwards, Stacey, Farshid, Gelareh , Fellows, AM, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet , Friedlander, Michael, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Harraka, Philip, Hayward, Nick, Hoskins, Cass , Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Koehler, Jessica, Kollias, J, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason , Li, Shuai, Lindeman, Geoff, Lippey, Jocelyn, Lipton, Lara, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Reed, Amy McCart, Milne, Roger, Nightingale, Sophie , O’Connell, Shona, O’Sullivan, Sarah, Reilly, Robert O', Ortega, David Gallego, Pachter, Nick, Pang, Jia-Min, Pathak, Gargi, Patterson, Briony, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Ragunathan, Abi, Robinson, Bridget, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Rodney, Scott, Clare, Sexton, Adrienne, Shaw, Joanne, Shelling, Andrew, Srinivasa, Shweta , Simpson, Peter, Mc, Southey, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, A H, Tucker, Kathy , Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, I, Young, Mary Ann, Zaheed, Milita , Investigators, S On Behalf Of The Chlovis Study, Tan, Veronique Kiak Mien , Lim, Geok Hoon, Tan, Ern Yu , Tan, Su-Ming, Iau, Philip Tsau Choong , Jakubowska, A, Jones, Michael E. , Jones, Louise , Jones, Brandt, Jung, Audrey, Kaaks, Rudolf, Keeman, Renske , Lawrence, Scott, Li, J M, Lubiński, J, Mannermaa, Arto, Manoochehri, Mehdi, Martens, John W M, Mesker, Wilma E, Muhammad, Noor , Obi, Nadia, Olson, Janet E, Patel, Alpa V, Prajzendanc, Karolina , Ruddy, Kathryn J, Safizadeh, Fatemeh , Schöttker, Ben, Tengström, Maria , Le, Teras, Timmermans, M, Tollenaar, RA, Vachon, Celine M, Wang, Q, Yang, Xiaohong R, Zamora, M Pilar, Chang-Claude, Jenny, Schmidt, M K, Pharoah, Paul D P, Abubakar, Mustapha, Eccles, Diana , Ahearn, Thomas U. , Eccles, Diana , Jones, Michael E , Jones, J. Louise , Berrington de Gonzalez, Amy , Antoniou, Antonis C. , Bane, Anita, Behrens, Sabine , Białkowska, Katarzyna , Bodelón, Clara , Brenner, Hermann , Broeks, Annegien , Chanock, Stephen Jacob , Chenevix‐Trench, Georgia , Copson, Ellen , Couch, Fergus J, Cox, Angela , Cross, Simon S. , Devilee, Peter , Dunning, Alison M. , Easton, Douglas F. , Figueroa, Jonine D. , Glendon, Gord, González‐Neira, Anna , Hartikainen, Jaana M. , Hartman, Mikael , Heemskerk‐Gerritsen, Bernadette A. M. , Ho, Peh Joo , Hodge, James M. , Holleczek, Bernd , Hollestelle, Antoinette , Hooning, Maartje J. , Investigators, kConFab, Balleine, Rosemary L. , Bennett, Ian, Bogwitz, Michael R. , Bodek, Simon , Botes, Leon P., Buckley, Michael , Cohen, Paul A. , Crook, Ashley , Courtney, Eliza , Dawson, Sarah‐Jane , DeFazio, Anna , Delatycki, Martin B. , Duijf, Pascal H. G. , Fellows, Andrew, Fenton, Georgina L. , Flanagan, James M. , Forrest, Laura Elenor , Friedländer, Michael , Harraka, Philip A. , Kidd, Alexa, Kollias, James, Lakhani, Sunil R. , Lawrence, Mitchell, Lindeman, Geoffrey J. , Lippey, Jocelyn , Loi, Sherene , Reed, Amy E. McCart , Milne, Roger L , Gallego‐Ortega, David , Pathak, Gargi, Pearn, Amy , Robinson, Bridget A. , Skandarajah, Anita Rohini , Salisbury, Elizabeth, Saunders, Christobel , Saunus, Jodi M. , Savas, Peter Stephen , Sexton, Adrienne , Shelling, Andrew Neil , Simpson, Peter, Spurdle, Amanda B. , Visvader, Jane E. , Williams, Rachael, Tan, Bien‐Keem , Lim, Geok Hoon , Kaaks, Rudolf , Lawrence, Scott M. , Lissowska, Jolanta , Mannermaa, Arto , Manoochehri, Mehdi, Mesker, Wilma E. , Mulligan, Anna Marie , Obi, Nadia , Olson, Janet E. , Osório, Ana , Ottewell, Penelope Dawn , Patel, Alpa V , Pita, Guillermo , Rashid, Muhammad Usman , Ruddy, Kathryn J. , Schöttker, Ben , Seibold, Petra , Tapper, William , Teras, Lauren R , Timmermans, Mieke, Vachon, Celine M. , Wesseling, Jelle , Yadav, Siddhartha , Chang‐Claude, Jenny , Schmidt, Marjanka K. , Abubakar, Mustapha , García‐Closas, Montserrat

JNCI: Journal of the National Cancer Institute | July 18, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1093/jnci/djag244 | PMID 42498670 Get It

Abstract Background Breast cancer is etiologically heterogeneous, but which risk factors differ in their associations across tumor subtypes remains unclear. We conducted a large, pooled analysis to evaluate independent, dose-response associations between breast cancer risk factors and quantitative tumor features. Methods Analyses of 15,731 invasive breast cancers from 24 studies evaluated associations (p-trend) between reproductive and hormonal factors, body mass index (BMI), alcohol, smoking, and family history in relation to quantitative immunohistochemistry measures on tissue microarrays (ER, PR, HER2, KI67, TP53) and tumor grade. Analyses in a subset of 10 population-based studies estimated subtype-specific odds ratios (ORs) comparing cases to controls. A Bayesian False Discovery Probability (BFDP) <0.2 was used to identify associations with strong statistical evidence. Results Nulliparity and later age at menopause were associated with higher ER-positivity (p-trend=0.021 and 0.001, respectively), with corresponding OR[ER+] (95% CI) = 1.49 (1.16-1.90) for nulliparous vs. parous and 1.07 (1.03-1.11) per 5 years. Current combined menopausal hormone therapy (MHT) use was associated with lower grade (p-trend<0.001), with OR [grade1] = 3.37 (2.69-4.21) for current vs. never users. Higher BMI was associated with lower ER-positivity and higher grade in premenopausal women (p-trend<0.001 and <0.001), with OR[ER+] = 0.80 (0.74-0.87) and OR[grade1] = 0.75 (0.63-0.88) per 5 units, and with higher PR-positivity and higher grade in postmenopausal women (p-trend<0.001 and <0.001), with OR[PR+] = 1.08 (1.03-1.14) and OR[grade 3] = 1.10 (1.04-1.17) per 5 units. Conclusion This pooled analysis of 15,731 cases showed that nulliparity, age at menopause, MHT, and BMI have independent, dose-response associations with ER, PR, and grade, clarifying patterns of etiologic heterogeneity. Associations with HER2, KI67 and TP53, or other risk factors did not meet our threshold for strong evidence.
Clinical Recommendations for Remote Robotic Assisted Surgery From the CRSA 2025 International Consensus Conference
Raptis, Dimitri Aristotle , Kavoussi, Louis, Wren, Sherry M. , Fowler, Dennis, Anvari, Mehran, Bianco, Francesco, Liang, Xiao, Li, Zheyong, Yin, Xiaoyu, Piccoli, Micaela, Marks, John, Shen, Baiyong, Ko, Clifford, Seeliger, Barbara, Hagendoorn, Jeroen, Essani, Rahila, Walsh, R. Matthew, Oleynikov, Dmitry, Jones, Stephanie B., Bindal, Vivek , Kim, Hyun Koo, Hyung, Woo Jin, Hashimoto, Daniel, Chen, Liaohai Leo, Burt, Bryan M., Lafaro, Kelly, Elli, Fernando, Wilson, Erik, Bianchi, Paolo Pietro, Morgan, Annette, Bartlett, Stephen T., Rashidi, Laila, Yu, Liu, Gawkins, Bill, Hinoul, Piet, Peine, Bill, Woo, Yanghee, Raoof, Mustafa, Jones, Daniel, Deshpande, Supriya, Bernard, Jordana , Wang, Yulun, Broering, Dieter C., Giulianotti, Pier Cristoforo, Fong, Yuman , Raptis, Dimitri , Wren, Sherry M , Aldousari, Saad , Ruurda, Jelle P. H. , Bindal, Vivek , Melstrom, Laleh , Celotto, Francesco , Kudsi, Yusef , Ratti, Francesca , Bernard, Jordana , Kavoussi, Louis R., Fowler, Dennis L. , Anvari, Mehran , Bianco, Francesco Maria , Piccoli, Micaela , Marks, John, Ko, Clifford, Seeliger, Barbara , Hagendoorn, Jeroen , Essani, Rahila, Walsh, R. Matthew , Oleynikov, Dmitry , Hyung, Woo Jin , Hashimoto, Daniel A. , Burt, Bryan M. , Lafaro, Kelly J. , Elli, Fernando, Bianchi, Paolo Pietro, Rashidi, Laila, Hinoul, Piet , Peine, Bill, Woo, Yanghee , Raoof, Mustafa , Jones, Daniel, Deshpande, Supriya , Bröering, Dieter C. , Giulianotti, Pier Cristoforo

World Journal of Surgery | July 14, 2026 | Volume: 50 | Issue: 8 | Pages: 2274-2288

10.1002/wjs.70468 | PMID 42444290 Get It

ABSTRACT Background Implementation of remote robotic‐assisted surgery (rRAS) has the potential to significantly improve access to high‐quality surgical care for patients worldwide. Advances in robotic systems and telecommunications now enable highly reliable, low latency, and cybersecure connectivity. These technological developments, together with the broader adoption of telemedicine, have driven an increasing interest in the implementation of rRAS. Methods The Clinical Robotic Surgery Association (CRSA) convened a conference to develop international clinical recommendations for rRAS using the Danish Model of Consensus. The society identified five key issue categories and invited a panel of experts to address specific questions for each. Panel members and a jury of 10 unbiased, non‐expert in rRAS professionals participated in a day‐long conference on November 19, 2025 (Los Angeles, USA). During the conference, participants presented, discussed, and reached consensus on specific guidelines relevant to each category. Immediately after the conference, the jury reviewed and approved the recommended guidelines. Results Multiple recommendations were approved for each of the following categories: Operating Models, Roles and Responsibilities (2 recommendations), Clinical Pathway (2 recommendations), Emergency Management (8 recommendations), Technical Considerations (5 recommendations), and Medico‐legal and Ethical Considerations (4 recommendations). Conclusions There was consensus that with recent advances in telecommunication and robotic technologies, rRAS can be offered safely and effectively if the identified safeguards are realized. Adoption of rRAS is expected to continue advancing rapidly.
Efficacy and Safety of Pharmaceutically Manufactured Cannabidiol in Recurrent Pericarditis: A Phase II Clinical Trial
Klein, Allan L. , Cremer, Paul , Abbate, Antonio , Salik, Jonathan R. , Thomas, Georgia , Haider, Syed Waqas , Hagerty, Tracy E., Lin, David, Waggoner, Thomas, Narine, Kelly A.D., Parker, Andrea B., Hamer, Andrew, Luis, Sushil A , Klein, Allan , Cremer, Paul C , Abbate, Antonio , Salik, Jonathan R , Thomas, Georgia K , Haider, Syed Waqas , Waggoner, Thomas E , Nicholls, Stephen J , Narine, Kelly A D , Luis, Sushil Allen , Hagerty, Tracy , Nicholls, Stephen J. , Kirwan, Bridget‐Anne

Journal of the American Heart Association | July 11, 2026 | Volume: 15 | Issue: 14 | Pages: No page available

10.1161/jaha.125.047605 | PMID 42432451 Get It

Background Recurrent pericarditis may be mediated through inappropriate activation of the NACHT, leucine‐rich repeat, and pyrin domain‐containing protein 3 inflammasome. Pharmaceutically manufactured cannabidiol is an oral formulation that inhibits NACHT, leucine‐rich repeat, and pyrin domain‐containing protein 3 inflammasome activation and development of pericarditis in a preclinical model. Methods This Phase 2, open‐label, multicenter trial included adult patients with symptomatic recurrent pericarditis: pericarditis chest pain ≥4 on an 11‐point numerical rating scale with an elevated C‐reactive protein (≥1 mg/dL) or at least mild pericardial inflammation on cardiac magnetic resonance imaging. At enrollment, patients were on stable doses of non‐steroidal anti‐inflammatory drugs, colchicine, and/or corticosteroids. Cannabidiol was administered during an 8‐week treatment period and an optional 18‐week extension period when background therapy was tapered and discontinued. The primary efficacy end point was change in patient‐reported pericarditis pain. Secondary end points included normalization of C‐reactive protein and percentage of patients with recurrences. Results Among 27 patients (18 women, mean age 53 years), baseline maximal numerical rating scale pain score was 5.8±1.7, and 10 patients had elevated C‐reactive protein. At Week 8, maximal numerical rating scale pain score was 2.1±1.8, and median time to numerical rating scale score ≤2 was 5 days. Among the 10 patients with baseline C‐reactive protein elevation, C‐reactive protein was normal at Week 8 in 8 patients (80%). During the extension period, 17 (71%) of 24 patients remained free of pericarditis recurrence. A serious adverse event leading to cannabidiol discontinuation occurred in 1 patient. Conclusions In symptomatic patients with recurrent pericarditis, pharmaceutically manufactured cannabidiol appears safe and associated with reductions in pericarditis pain and systemic inflammation. Registration URL: clinicaltrials.gov ; Unique Identifier: NCT05494788.
Real-World Practice in Secondary Stroke Prevention Following Embolic Stroke of Undetermined Source
Nour, Hassan Aboul , Siegler, James E. , Thompson, Sean, Glover, Patrick , Daniel, J, Penckofer, Mary , Smith, M A, Yaghi, Shadi , Chen, L, Kerrigan, Deborah , Kirchhoffer, Kaitlyn, Kam, Wayneho , Melkumova, Emiliya , Lineback, Christina , Thottempudi, Neeharika , Heaton, Sharon, Linares, Guillermo , Singh, Eesha , Fernández, Camilo José Albert, Dumitrașcu, Oana , Bowman, Anna, Porto, Camelia Valhuerdi, Chahien, Dalia, Herpich, Franziska , Kang, Jieun , Nelson, Ashley , Shahrivari, Mahan, Khezri, Nicole, Lewis, Skylar, Sathya, Anvitha , Leung, Lester Y. , Eklund, Kelsey , Rojas-Soto, Diana , Nedelcu, Simona , Kasab, Sami Al , Coevering, Russell J. Van, Thon, Jesse , Aboul-Nour, Hassan , Siegler, James E , Thompson, Sean L , Glover, Patrick , Daniel, Jean-Philippe Auguste , Smith, Matthew M , Ro, Jennifer , Chen, Lucia , D'Souza, Marissa , Khasiyev, Farid , Kerrigan, Deborah , Sharma, Richa , Aziz, Yasmin , Kirchhoffer, Kaitlyn , Kam, Wayneho , Melkumova, Emiliya , Sloane, Kelly L , Lineback, Christina M , Thottempudi, Neeharika , Heaton, Sharon , Linares, Guillermo , Almallouhi, Eyad , Stretz, Christoph , Dumitrascu, Oana M , Culbertson, Collin J , Elangovan, Cheran , Bowman, Anna , Valhuerdi Porto, Camelia , Chahien, Dalia , Herpich, Franziska , Farooqui, Mudassir , Kang, Jieun , de Havenon, Adam H , Nelson, Ashley , Shahrivari, Mahan , Stamm, Brian , Khezri, Nicole , Lewis, Skylar , Sathya, Anvitha , Leung, Lester Y , Eklund, Kelsey , Rojas-Soto, Diana , Nedelcu, Simona , Al Kasab, Sami , Thon, Jesse , Jillella, Dinesh V , Nahab, Fadi B , Yaghi, Shadi , Penckofer, Mary , D’Souza, Marissa , Khasiyev, Farid , Sharma, Richa , Aziz, Yasmin , Almallouhi, Eyad , Stretz, Christoph , Elangovan, Cheran , Havenon, Adam de , Stamm, Brian , Coevering, Russell J. Van , Jillella, Dinesh

Neurology Clinical Practice | July 10, 2026 | Volume: 16 | Issue: 4 | Pages: No page available

10.1212/cpj.0000000000200631 | PMID 42430672 Get It

Cross-definition GWAS of IBS in 2.8 million individuals reveals cardiometabolic and triglyceride-linked mechanisms
Lorenzo, Biagio Di, Tavares, Letícia Camargo , Díaz-Muñoz, Cristian , Heredia-Fernández, Francisco , Bozzarelli, Isotta, Blanco, Cristina Esteban, Wang, Zhe, Smit, Roelof A J, Loos, Ruth J F, Hirbo, Jibril, Cox, Nancy J, Straub, Peter, Favé, Marie-Julie , Pozdeyev, Nikita, Gignoux, Christopher R, Gudbjartsson, Daniel F, Thorleifsson, Gudmar, Jónsdóttir, Ingileif , Stefansson, Kari, Palta, Priit, Sze, Gerald , John, Catherine, Richmond, Anne, McCartney, Daniel, Hayward, Caroline, Mulford, Ashley J, Sanders, Alan R, Dombrovska, Marija Simona, Capasso, Mario, Faro, Valeria Lo, Maya, Esteban Alexander Lopera, Zhernakova, A, Cohort, Lifelines, Martin, Alicia, Vanderwerff, Brett , Zöllner, Sebastian, Ferolito, Brian R. , Pereira, Alexander Castanho, Gaziano, J. Michael , Caruth, Lanna, Guare, Lindsay, Kripke, Colleen Morse , Rader, Daniel J, Verma, Shefali S, Verma, Anurag, BioBank, Penn Medicine, Saad, Chadi, Chao, Pei-Yu, Chen, Tzu-Ting, Lin, Yen-Feng, Feng, Yen‐Chen Anne , Khalili, Hamed , Andries, Aristomo , Ness‐Jensen, Eivind , Grover, Madhusudan , FinnGen, Lemmelä, Susanna, Abner, Erik , Challa, Prasanna K , Khalili, Hamed , Ness-Jensen, Eivind , Grover, Madhusudan , D'Amato, Mauro , Loos, Ruth J F , Camargo Tavares, Leticia , Lorenzo, Biagio Di , Smit, Roelof A. J. , Loos, Ruth J. F. , Hirbo, Jibril B , Cox, Nancy J., Awadalla, Philip , Pozdeyev, Nikita V. , Gignoux, Chris , Gudbjartsson, Daniel Fannar , Þorleifsson, Guðmar , Priit, Palta , Williams, Alexander T. , Coley, Kayesha , John, Catherine , Richmond, Anne , Mulford, Ashley J. , Pečulis, Raitis , Rovīte, Vita , Capasso, Mario , Faro, Valeria Lo , Sinha, Trishla , Lopera-Maya, Esteban A. , Zhernakova, Alexandra , Wang, Ying, Vanderwerff, Brett , Zöllner, Sebastian , Cho, Kelly , Guare, Lindsay A. , Rader, Daniel J , Verma, Shefali S. , Saad, Chadi , Mbarek, Hamdi , Brumpton, Ben , Lemmelä, Susanna M. , Sanna, Serena , Bonfiglio, Ferdinando , D’Amato, Mauro

Gut | July 9, 2026 | Volume: No volume available | Issue: No issue available | Pages: gutjnl-2026-338800

10.1136/gutjnl-2026-338800 | PMID 42425734 Get It

Background Irritable bowel syndrome (IBS) is a complex disorder of gut-brain interaction, with heterogeneous symptoms, no available biomarkers and limited pathogenetic insight. Objective To identify genetic risk factors and actionable mechanisms for future clinical translation in IBS. Design We conducted a genome-wide association study (GWAS) meta-analysis of IBS in 2 775 539 individuals from 22 biobanks. IBS genetics was studied across multiple ancestries, different case definitions and symptom-related subtypes. Heritability and genetic correlations with other traits were estimated, and Mendelian randomisation was used to test causal relationships. GWAS data were functionally annotated and fine-mapped to prioritise tissues, cell types, pathways, candidate genes, specific mechanisms and druggable targets. Results Significant heritability was only detected in individuals of European ancestry, with near-identical genetic architecture across case definitions. Genetic correlations with GI, psychiatric and cardiometabolic traits were observed, including causal relationships with triglyceride (TG) levels. Functional annotation of IBS risk loci highlighted cell types and pathways relevant to brain, enteric neuro-glial and cardiometabolic domains, as well as actionable targets like GCKR, a regulator of TG metabolism. Druggability analyses converged on cardiometabolic mechanisms, including TG modulation. IBS polygenic risk scores were derived and showed a significant association with case status in an independent case-control dataset, supporting further evaluation in external population-based and clinically ascertained cohorts. Conclusions This study provides the most comprehensive assessment of IBS genetics to date, demonstrating reproducible polygenic inheritance. We link IBS risk to convergent neurogastrointestinal and novel cardiometabolic mechanisms, highlight specific biological pathways and actionable mechanisms and outline translational opportunities emerging from integrated computational analyses.
Evaluating MAPT p.A152T as a risk factor for the 3R tauopathy Pick’s disease
Tamvaka, Nicole , Scotton, William J. , Lilley, Meredith T. , Shoai, Maryam , Gavrielatos, Marios , HECKMAN, M, Roemer, Shanu F, Baker, Matthew C, Rademakers, Rosa, Hardy, John , Cook, Casey , Lashley, Tammaryn , Jaunmuktane, Zane, Mok, Kin, Revesz, Tamas, Christopher, Elizabeth, DeTure, Michael, Koga, Shunsuke, Graff-Radford, Neill R, Boeve, Bradley F, Josephs, Keith A. , Petersen, Ronald C, Whitwell, Jennifer , Duara, Ranjan, Lyons, Kelly E, Miller, Bruce, Schlereth, Athena, Spina, Salvatore, Irwin, David J, Wolk, David A, Suh, EunRan, Deerlin, Vivianna M Van, Lee, Edward B, Frosch, Matthew P. , Molina-Porcel, Laura, Aldecoa, Iban, Balasa, Mircea, Borrego-Ecija, Sergi, Sanchez-Valle, Raquel, Gascón‐Bayarri, Jordi , Sanz-Cartagena, Pilar , Huélamo, Rosa Maria de Eugenio, Gefen, Tamar, Castellani, Rudolph J, Rogalskı, Emily , Weıntraub, Sandra , Bieniek, Kevin F, Zhu, Xiongwei, Redding-Ochoa, Javier, Troncoso, Juan C. , Ghetti, Bernardino, Newell, Kathy L. , Jacobsen, Max, Roncaroli, Federico, Jones, Matthew, Richardson, Anna, Snowden, Julie, Allinson, Kieren, Beach, Thomas G, Teich, Andrew F, Flowers, Xena, Heaps, Allison C, Leskinen, Sandra , Keith, Julia , Masellis, Mario, King, Andrew, Sarraj, Safa-Al, Hodges, John R. , Gearing, Marla , Roeber, Sigrun, Attems, Johannes, Boluda, Susana , Seilhean, Danielle, Ber, Isabelle Le, Turbant-Leclere, Sabrina, Mackenzie, Ian R. , Sieben, Anne, Cras, Patrick , Vil, Bart B De, Deyn, P P De, Keene, C Dirk, Latimer, Caitlin S. , Schantz, Aimee, Bird, Thomas D, Haroutunian, Vahram, Purohit, Dushyant, Rissman, Robert, Cykowski, Matthew D. , Wang, Shih-Hsiu J, Ervin, John F. , Nennesmo, Inger , Nagra, Rashed M. , Riehl, James, Kovacs, Gabor G, Neumann, Manuela, Ang, Lee-Cyn, Cunha, Cristina, Blauwendraat, Cornelis , Nalls, Mike A., Singleton, Andrew B, Perrin, Richard J. , Chaffee, Anne M, Scotton, William , Murray, Melissa E , Dickson, Dennis W , Ross, Owen A , Hardy, John , Shoai, Maryam , Lashley, Tammaryn , Heckman, Michael G. , Soto‐Beasley, Alexandra I. , Roemer, Shanu F. , Rademakers, Rosa , Murray, Melissa E. , Dickson, Dennis W. , Rohrer, Jonathan D. , Ross, Owen A. , Valentino, Rebecca R. , Macpherson, Hannah L. , Warner, Thomas T. , Jaunmuktane, Zane , Martínez-Carrasco, Alejandro , Revesz, Tamas, DeTure, Michael , Koga, Shunsuke , Graff‐Radford, Neill R. , Boeve, Bradley F. , Petersen, Ronald C. , Duara, Ranjan, Pahwa, Rajesh , Grinberg, Lea T. , Seeley, William W. , Miller, Bruce L , Spina, Salvatore , Suh, EunRan , Deerlin, Vivianna M. Van , Connors, Theresa R. , Oakley, Derek H. , Molina‐Porcel, Laura , Aldecoa, Ibán , Balasa, Mircea , Borrego‐Écija, Sergi , Sánchez‐Valle, Raquel , Piñol‐Ripoll, Gerard , Gelpí, Ellen , Gefen, Tamar , Castellani, Rudolph J. , Flanagan, Margaret E. , Schneider, Julie A. , Bieniek, Kevin F. , Redding‐Ochoa, Javier , Chang, Koping , Prokop, Stefan , Ghetti, Bernardino, Robinson, Andrew , Roncaroli, Federico , Kobylecki, Christopher , Richardson, Anna, Rowe, James B. , Quaegebeur, Annelies , Allinson, Kieren Simon James, Beach, Thomas G. , Serrano, Geidy E. , Teich, Andrew F. , Black, Sandra E. , Masellis, Mario, Troakes, Claire , Halliday, Glenda M. , Kril, Jillian J. , Kwok, John B. , Piguet, Olivier , Morris, Christopher M. , Thomas, Alan , White, Charles L. , Evers, Bret M. , Mechawar, Naguib , Seilhean, Danielle , Ber, Isabelle Le , Leclère-Turbant, Sabrina, Vil, Bart De , Deyn, Peter Paul De , Keene, C Dirk, Haroutunian, Vahram , Purohit, Dushyant P. , Walker, Jamie M. , Rissman, Robert A. , McLean, Catriona , Graff, Caroline , Riehl, James R. , Giaccone, Giorgio , Neumann, Manuela , Finger, Elizabeth C. , Carvalho, Agostinho , Morris, Huw R. , Singleton, Andrew B, Vitale, Dan , Chaffee, Ann, Wszołek, Zbigniew K.

Brain Communications | July 9, 2026 | Volume: 8 | Issue: 4 | Pages: No page available

10.1093/braincomms/fcag266 | PMID 42553595 Get It

Abstract Genetic studies have significantly advanced our understanding of tauopathies, yet the genetic aetiology of Pick’s disease, a rare 3-Repeat tauopathy, remains unclear. The MAPT p.A152T variant has been identified as a risk factor for Alzheimer’s disease and progressive supranuclear palsy, but its role in Pick’s disease is unknown. In this study, we examined the prevalence of MAPT p.A152T in the largest series of neuropathologically confirmed Pick’s disease cases to date (n = 401). Through genotyping, we identified a single mutation carrier in the Pick’s disease cohort (minor allele frequency = 0.12%). We previously reported MAPT p.A152T at a 0.20% frequency in healthy controls (n = 2456), suggesting that it does not associate with 3-Repeat tauopathy risk. To further investigate the effect of the variant on MAPT transcript expression, we used bulk RNA sequencing in Alzheimer’s disease and progressive supranuclear palsy A152T mutation carriers. We did not detect significant differences in 4-Repeat tau levels, though preliminary trends may indicate more nuanced effects that need to be examined with long-read sequencing in a larger series. Overall, our study suggests that MAPT p.A152T does not increase Pick’s disease risk and may instead be linked to 4-Repeat or mixed tau pathologies, warranting further functional investigation.