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385 citation(s) found for "Dale, A".

The Protective Role of Hormonal Birth Control in Idiopathic Subglottic Stenosis
Awadallah, Andrew S. , Khalil, Yousuf H. , Bowen, Andrew J. , Ali, Hawa M. , Li, Yan , Rutt, Amy L. , Edell, Eric S. , Ekbom, Dale C. , Bayan, Semirra L. , Ekbom, Dale , Rutt, Amy L. , Bowen, Andrew Jay , Awadallah, Andrew , Koster, Matthew J.

The Laryngoscope | August 27, 2025 | Volume: 136 | Issue: 2 | Pages: 832-837

10.1002/lary.70077 | PMID 40862331 Get It

ABSTRACT Background Idiopathic subglottic stenosis (iSGS) occasionally affects women of childbearing age. Surgical intervention is the primary treatment, yet limited research exists on factors influencing disease severity. This study explores the impact of hormonal contraception on iSGS recurrence rates and surgery‐free intervals. Methods This retrospective study was conducted at a tertiary academic care center. Patients using hormonal birth control (e.g., estrogen‐progesterone pills, progesterone implants) during their first procedure were classified in “Birth Control (BC)” group, while those not using contraceptives were placed in “No Birth Control (NBC)” group. Poisson regression evaluated recurrence rates, and Mann–Whitney tests assessed surgery‐free intervals. Kaplan–Meier analysis estimated time to first recurrence, adjusting for age and follow‐up duration. Results Twenty‐six patients were in the NBC group and 12 in the BC group (average ages 37 and 34, respectively). Patients in the NBC group were 2.6 times more likely to experience recurrence compared to those in the BC group ( p = 0.001). The expected number of recurrences for the BC group was 0.4 times that of the NBC group (95% CI: 0.2–0.7; p = 0.001). Furthermore, patients taking birth control were significantly less likely to have a first recurrence (HR: 0.4; 95% CI: 0.2–0.9; p = 0.025) and had longer times to first recurrence (Figure 1; p = 0.031). Conclusions Birth control appears to protect against iSGS severity, potentially through hormonal mechanisms. Hormonal contraception may serve as a non‐surgical alternative for managing iSGS. Future prospective studies may evaluate outcomes in newly diagnosed iSGS patients started on birth control compared to those not using hormonal contraceptives. Level of Evidence 3.
Re: “the challenges of measuring socioeconomic inequality in pharmacoepidemiology studies”
Wi, Chung‐Il , Shim, Dale, Juhn, Young J. , Wi, Chung-Ii

American Journal of Epidemiology | August 15, 2025 | Volume: 194 | Issue: 11 | Pages: 3394-3395

10.1093/aje/kwaf170 | PMID 40826906 Get It

Positive Predictive Value of Tissue Transglutaminase IgA for Celiac Disease
Wong, Madison , Cárdenas, María C. , Stahl, Marisa G. , Liu, Edwin , Caplan, Mayan, Gidrewicz, Dominica , Leonard, Maureen M. , Pacheco, M. Cristina, Dickerson, Jane A. , Raber, Catherine , Badalyan, Vahe , Chugh, Ankur , Baek, Clara, Singh, Arunjot , Fahey, Lisa M. , Walsh, Catharine M. , Silvester, Jocelyn A. , Absah, Imad , Camila Cardenas, Maria, Silvester, Jocelyn A , Walsh, Catharine M , Chang, Denis , Caplan, Mayan, King, James A. , Turner, Justine , Lee, Dale Young , Setty, Mala , Baek, Clara

Pediatrics | August 8, 2025 | Volume: 156 | Issue: 3 | Pages: No page available

10.1542/peds.2025-070897 | PMID 40774665 Get It

BACKGROUND AND OBJECTIVES Recent changes in European diagnostic criteria allow for serologic diagnosis of celiac disease in children. Those guidelines have not been adopted in North America; hence, we aim to assess the positive predictive value (PPV) of tissue transglutaminase (tTG) immunoglobulin A (IgA) assays used in North America in identifying histologic findings of celiac disease. METHODS Multicenter retrospective cohort study of children (<18 years) with an elevated tTG IgA within 6 months of an esophagogastroduodenoscopy between January 2016 and December 2021. Biopsy-confirmed celiac disease was determined by the presence of intraepithelial lymphocytosis and villous atrophy. The primary outcomes were the PPV of an elevated tTG IgA and tTG IgA greater than or equal to 10 times the upper limit of normal (10× ULN). RESULTS Overall, 4019 children (63.3% female; 9% type 1 diabetes, 2% Down syndrome) were included. Histologic findings were consistent with celiac disease for 3321 children (PPV = 82.6% [95% CI, 81.4–83.8]). Among the 1739/4019 (43.2%) children with tTG IgA greater than or equal to 10× ULN, 1651 had biopsy-confirmed celiac disease (PPV10× = 94.9% [95% CI, 93.8–95.9]). Five percent (88/1739) of children did not have histologic findings of celiac disease, including 41/1739 (2%) with normal histology. Diagnostic accuracy of tTG IgA varied widely among assays used in North America (PPV range: 71.5%–88.8%; PPV10× range: 89.3%–97.3%). Assays performed worse in children with type 1 diabetes (PPV10× 89% [95% CI, 83.5–92.8]). CONCLUSIONS Elevated tTG IgA in isolation is insufficient to confidently diagnose celiac disease. As tTG assay performance varied widely, diagnostic confirmation by a specialist prior to dietary changes is essential.
Measuring the Risk of Gluten Exposure: Development of the Gluten Exposure Risk Assessment in Pediatric Patients
Hale, Amy E. , Germone, Monique , Fahey, Lisa M. , Stahl, Marisa G. , Leonard, Maureen M. , Singh, Arunjot , Hajjat, Temara , Mallon, Daniel , Kerzner, Benny, Raber, Catherine , Badalyan, Vahe , Mehta, Pooja , Liu, Edwin , Shull, Mary , Absah, Imad , Ediger, Tracy , Jericho, Hilary , Khavari, Nasim, Jossen, Jackie , Wolf, Randi L. , Wong, Madison , Regis, Stephanie , Weisbrod, Vanessa , Silvester, Jocelyn A. , RAISE-CD, Stahl, Marisa , Verma, Ritu , Jericho, Hilary , Wolf, Randi L , Regis, Stephanie , Weisbrod, Vanessa , Silvester, Jocelyn A , Mallon, Daniel , Lee, Dale Young , RAISE-CD

American Journal of Gastroenterology | July 30, 2025 | Volume: 121 | Issue: 5 | Pages: 1251-1258

10.14309/ajg.0000000000003675 | PMID 40736693 Get It

INTRODUCTION: Treatment of celiac disease (CeD) requires a strict gluten-free diet (GFD). Adherence is difficult to assess and influenced by many factors. Identification of potential gluten exposures is essential, but no validated screening measures exist in pediatrics. The aim of this study was to develop and validate a measure screening for gluten exposure risk in pediatric patients with CeD. METHODS: The Gluten Exposure Risk Assessment (GERA) was developed in 3 phases. First, items were generated and refined by a modified Delphi process. Next, psychometrics, factor structure, and validity were examined in a sample of caregivers of pediatric patients younger than 18 years with CeD at 12 pediatric celiac centers. Finally, the final measure was tested on an independent sample population using confirmatory factor analysis and test-retest data. RESULTS: A total of 134 items were generated representing up to 6 domains, with 36 items selected for initial testing. Based on psychometrics and confirmatory factor analysis data from 484 caregivers, the final measure included a total of a single screening question and 9 validated items representing 2 domains (Home, Outside). Repeat testing on a separate sample (N = 369) confirmed factor structure and validity of the final measure (Comparative Fit Index = 0.96, Tucker–Lewis index = 0.95, root mean square error of approximation = 0.06). DISCUSSION: The GERA is a valid screening measure, completed by caregivers, for assessment of gluten exposure in children and adolescents with CeD following a GFD. GERA is a useful tool for evaluating the potential of risk of gluten exposure and potential need for intervention.
Antiphospholipid antibody-related clinical manifestations during childhood versus adulthood: descriptive results from the AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) clinical database and repository
Bhatt, Jheel Pandya, Dale, Marissa, Clarke, Ann E. , Aguirre-Zamorano, María Ángeles, Kello, Nina , Wahl, Denis, Branch, Ware, Zhang, Zhuoli , Atsumi, Tatsuya , Pazzola, Giulia, Nalli, Cecilia , Rodríguez-Almaraz, Esther , Petri, Michelle, Artım-Esen, Bahar , Zuo, Yu , Willis, Rohan , Barber, Megan R.W. , Anunciación-Llunell, Ariadna , Erkan, Doruk , Zuo, Yu , Bhatt, Jheel Pandya, Andrade, Danieli , Tektonidou, Maria G. , Pengo, Vittorio , Sciascia, Savino , Gea, Josep Pardos , Paredes, D. , Belmont, H. Michael , Fortin, Paul R. , Wahl, Denis , Gerosa, Maria , Jesús, Guilherme Ramires de , Efthymiou, Maria , Duarte‐García, Alí , Petri, Michelle , Cervera, Ricard , Pons‐Estel, Guillermo , Shi, Hui , Skeith, Leslie , Radin, Massimo , Bertolaccini, Maria Laura , Cohen, Hannah

Clinical and Experimental Rheumatology | July 30, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.55563/clinexprheumatol/t46qkf | PMID 40737058 Get It

Surgical Management of Idiopathic Subglottic Stenosis During Pregnancy: A Multi‐Institutional Study
Awadallah, Andrew S. , Khalil, Yousuf H. , Bowen, Andrew J. , Ali, Hawa M. , Ring, Sydney , McCalla, Monet, Francis, David O. , Dailey, Seth H. , Edell, Eric S. , Ekbom, Dale C. , Bayan, Semirra L. , Ekbom, Dale , Bowen, Andrew Jay , Awadallah, Andrew , Francis, David O , Koster, Matthew J.

The Laryngoscope | July 29, 2025 | Volume: 135 | Issue: 12 | Pages: 4767-4773

10.1002/lary.32464 | PMID 40726462 Get It

ABSTRACT Background Managing idiopathic subglottic stenosis (iSGS) during pregnancy presents distinct clinical challenges. As pregnancy is a naturally dyspneic state, the development of iSGS may exacerbate respiratory symptoms and compromise the airway—potentially impacting pregnancy and delivery decisions. This study characterizes surgical management strategies and outcomes in pregnant patients with symptomatic iSGS. Methods We conducted the largest known multi‐institutional retrospective review of pregnant patients who underwent endoscopic intervention for iSGS. Demographics, procedural details, anesthesia and medication use, and maternal and neonatal outcomes were analyzed. Results Twelve patients underwent 15 endoscopic procedures during pregnancy: 9 laser wedge excisions (8 CO 2 laser and 1 coblator) and 6 balloon dilations. Three additional procedures in different patients occurred postpartum (2–11 months after delivery). Higher‐risk pregnancies included two twin gestations, one patient with multiple surgeries during two different pregnancies, and two patients over age 35. Most interventions (87%) occurred in the second trimester. Fetal monitoring was performed preoperatively and postoperatively. Fentanyl and propofol were used in 88% and 94% of cases, respectively; rocuronium was the most common neuromuscular blocker (70%). One patient underwent balloon dilation via flexible bronchoscopy without anesthesia. Jet ventilation was used in 53% of cases, and Size C Kleinsasser laryngoscopes in 47%. Median procedure times were 75, 19, and 18 min for laser wedge excision, balloon dilation, and coblation, respectively. Most patients delivered full‐term with no surgical or postpartum complications. Conclusions Endoscopic intervention for iSGS during pregnancy appears safe and effective, even in high‐risk cases. These findings support individualized airway management and inform future practice. Level of Evidence 4.
Ophthalmic Knowledge Assessment Program Scores and Written Qualifying Examination Performance
Thanitcul, Chanon, Schnabel, Sarah , Bartley, George B., Lee, Andrew G., Crump, Hally, Fajardo, Dale , Peters, Kathryn F., Wilson, Beth, Peters, Kathryn, Srikumaran, Divya S.

JAMA Ophthalmology | July 10, 2025 | Volume: 143 | Issue: 8 | Pages: 678

10.1001/jamaophthalmol.2025.1933 | PMID 40638098 Get It

ImportanceThe Ophthalmic Knowledge Assessment Program (OKAP) has been widely used to determine readiness to take the high-stakes Written Qualifying Examination (WQE). However, it is unclear how well OKAP performance can predict WQE outcomes.ObjectiveTo examine the association between the OKAP and WQE nationally.Design, Setting, and ParticipantsThis was a retrospective cohort study conducted from 2017 to 2022. This national data analysis included residents from ophthalmology residency programs in the US. Study data were analyzed June 2023 to December 2024.ExposuresOKAP and WQE data.Main Outcomes and MeasuresThe national OKAP examination data and the WQE data were matched. Candidates who had complete data for the OKAP during postgraduate year (PGY) 2, 3, and 4 and completed the WQE were included in the study. Two-sample t tests, logistic regression analysis, receiver operating characteristic curves, and confusion matrix were used to examine the association of various test scores (PGY-2 OKAP, PGY-3 OKAP, PGY-4 OKAP, minimum OKAP, maximum OKAP, average OKAP) as predictors for WQE outcomes (pass or fail). Multiple logistic regression analyses were also used to assess the association of gender, time since graduation, program size, and WQE pass/fail outcomes.ResultsA total of 1597 residents (907 male [56.8%]) from 117 residency programs were included in this study. First-time pass rate of the WQE was 89% (1418 of 1597 residents). OKAP scores, particularly average OKAP, maximum OKAP, and PGY-4 OKAP scores (all had area under the curve = 0.88), were the most useful predictor of WQE outcomes. PGY-4 OKAP scores were used for the rest of the analysis for simplicity. A PGY-4 OKAP scaled score of 550 corresponded to 94% of candidates passing the WQE. Using PGY-4 OKAP scores to predict passing/failing, the WQE had 90.7% accuracy. Gender (odds ratio [OR], 1.50; 95% CI, 1.01-2.26; P = .048), program size (OR, 1.55; 95% CI, 0.98-2.41; P = .06), and time since residency graduation (OR, 1.00; 95% CI, 1.00-1.00; P = .14) were not included in the logistic regression model investigating the association of PGY-4 OKAP scores with the likelihood of passing the WQE.Conclusions and RelevanceResults suggest that OKAP examination scores were associated with passing the WQE after adjusting for program size, gender, and time since residency graduation. Further analyses may be warranted to predict failing the WQE so that potential interventions can be attempted.
Socioeconomic and lifestyle factors associated with chronic musculoskeletal disorders in Brazil: a network analysis of a population-based study involving 87,648 Brazilian adults
Oliveira, Arão Belitardo , Woldeamanuel, Yohannes W. , Kubota, Gabriel Taricani , Delgado, P. Benedicto , Pelicer, Yane C. , Partamian, Kriscia , Pereira, Larissa Karen, Welch, Madeline, Touche, Roy La , Reina‐Varona, Álvaro , Bond, Dale S. , Goulart, Alessandra C. , Woldeamanuel, Yohannes Woubishet , Delgado, Priscilla B , Benseñor, Isabela M , Benseñor, Isabela M.

Therapeutic Advances in Chronic Disease | July 5, 2025 | Volume: 16 | Issue: No issue available | Pages: No page available

10.1177/20406223251350884 | PMID 40599678 Get It

Background: Musculoskeletal disorders (MSKDs) are the leading cause of disability worldwide. The associations between socioeconomic and lifestyle factors and MSKDs have been widely studied in Europe and North America. However, little data are available about their relationship in Latin America. Objectives: To estimate the prevalence of chronic MSKDs in Brazil and assess their relationship with socioeconomic and lifestyle factors. Design: This is a cross-sectional study, based on a subanalysis of the open-access database from the Brazilian National Health Survey 2019. This survey was a nationwide, cross-sectional, door-to-door study that included 87,648 adults and was conducted between 2019 and 2020. Methods: Prevalence estimates were based on weighted sample strata, and the relationship between MSKD and socioeconomic and lifestyle factors was examined through network analysis and weighted Poisson regression models with robust variance. Results: The weighted prevalence of chronic MSKDs was estimated at 26.1% (95% confidence interval, 25.5%–26.8%). In the network analysis, including all socioeconomic and lifestyle variables, MSKDs prevalence was notably linked to higher body mass index, drinking, smoking, and low income. In the regression models, MSKD prevalence was associated with obesity, sleep disorders, smoking, alcohol consumption, and depression, and inversely associated with physical activity, even after controlling for the sociodemographic disparities. Conclusion: This study identifies specific socioeconomic and lifestyle factors associated with MSKDs and highlights the need for immediate national health promotion programs focused on MSKDs prevention through targeted lifestyle modifications, especially in populations belonging to the lower-income strata in Brazil.
Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder
Veen, Tracey van der , Tesfaye, Markos , Yang, Jessica , Boltz, Toni , David, Friederike S. , Crinion, Shane , Koromina, Maria , Bigdeli, Tim B., Coombes, Brandon J., Panagiotaropoulou, Georgia, Parker, Nadine, Sung, Heejong , Bass, Nicholas, Coleman, Jonathan R. I., Guzman-Parra, José , Kálmán, János , McGrouther, Caroline C., Rangan, Aaditya V. , Scott, Katie , Vreeker, Annabel , Bauer, Michael , Brunkhorst-Kanaan, Nathalie, Byerley, William , Cervantes, Pablo , Chatzinakos, Chris , Claus, Isabelle , Cruceanu, Cristiana , Cuellar-Barboza, Alfredo, Dafnas, Konstantinos , Degenhardt, Franziska, Fanous, Ayman H. , Ferrier, I. Nicol , Forty, Liz , Frank, Josef , Freimer, Nelson B. , Hamshere, Marian L., Harder, Arvid , Hautzinger, Martin , Hellgren, Dennis, Hoffmann, Per, Jönsson, Lina , Kittel‐Schneider, Sarah , Knowles, James A. , Lavebratt, Catharina , Lawrence, Jacob , Leber, Markus , Lucae, Susanne , Lundberg, Martin , Maier, Wolfgang , Maihofer, Adam X. , Maratou, Eirini , McKay, James , Medeiros, Helena , Meyer‐Lindenberg, Andreas , Moutsatsou, Paraskevi , Mühleisen, Thomas W. , O’Connell, Kevin S. , Papiol, Sergi , Perry, Amy , Pisanu, Claudia , Potash, James B. , Rapaport, Mark Hyman , Regeer, Eline J. , Rice, John P. , Schulte, Eva C. , Senner, Fanny , Shilling, Paul D. , Sirignano, Lea , Slaney, Claire , Smeland, Olav B. , Sobell, Janet L. , Stein, Dan J. , Vawter, Marquis P. , Vedder, Helmut , Witt, Stephanie H. , Zandi, Peter P. , Investigators, Genomic Psychiatry Cohort (GPC), Psychiatry, HUNT All-In, Bengesser, Susanne , Berrettini, Wade H. , Blackwood, Douglas, Boehnke, Michael , Catts, Stanley V. , Craddock, Nicholas , Dikeos, Dimitris , Ferentinos, Panagiotis , Frye, Mark A. , Gawlik, Micha , Kahn, René S., Landén, Mikael , Lenger, Melanie , Loughland, Carmel , Melle, Ingrid , Myers, R , Müller‐Myhsok, Bertram , Neale, Benjamin M. , Øedegaard, Ketil J. , Paciga, Sara A. , Pato, Carlos N. , Pawlak, Joanna , Perlis, Roy H. , Reif, Andreas , Schalling, Martin , Scott, Laura J. , Scott, Rodney J., Stahl, Eli A. , Stordal, Eystein , Sullivan, Patrick F., Vaaler, Arne E. , Waldman, Irwin D. , Ophoff, Roel A. , Mullins, Niamh , Forstner, Andreas J. , van der Veen, Tracey , Yang, Jessica Mei Kay , Alda, Martin , Ophoff, Roel A , O'Connell, Kevin S , Mullins, Niamh , Forstner, Andreas J , Grigoroiu-Serbanescu, Maria , Edenberg, Howard J , McMahon, Francis , Andreassen, Ole A , Di Florio, Arianna , McQuillin, Andrew , Witt, Stephanie H , Meyer-Lindenberg, Andreas , Stein, Dan J , Papiol, Sergi , Cruceanu, Cristiana , Schulte, Eva , Kittel-Schneider, Sarah , Lavebratt, Catharina , Pisanu, Claudia , Reif, Andreas , Perlis, Roy H , Andlauer, Till F. M. , Bigdeli, Tim B. , Coombes, Brandon J. , Greenwood, Tiffany A. , Panagiotaropoulou, Georgia , Parker, Nadine , Bass, Nicholas, Coleman, Jonathan Ri , Mitchell, Brittany L. , Shadrin, Alexey A. , Smith, Daniel J. , Adorjan, Kristina , Albani, Diego , Alemany, Silvia , Alliey‐Rodriguez, Ney , Antoniou, Anastasia , Beins, Eva Carolina , Boks, Marco P. , Bosch, Rosa , Brumpton, Ben , Budde, Monika , Cabana‐Domínguez, Judit , Cairns, Murray J. , Carpiniello, Bernardo , Casas, Miguel , Clarke, Toni‐Kim , Cuéllar‐Barboza, Alfredo B. , Czerski, Piotr M. , Dale, Anders M. , Dalkner, Nina , DePaulo, J Raymond , Djurovic, Srdjan , Escott‐Price, Valentina , Fellendorf, Frederike T. , Frei, Oleksandr , Garnham, Julie , Gizer, Ian R. , Gordon, Scott D. , Gordon‐Smith, Katherine , Hahn, Tim , Hamshere, Marian L. , Heilbronner, Urs , Herms, Stefan , Hickie, Ian Bernard , Hoffmann, Per , Holmans, Peter , Jamain, Stéphane , Kennedy, James L. , Koch, Elise , Kogevinas, Manolis , Kranz, Thorsten M. , Kushner, Steven A. , Lind, Penelope A. , Lundberg, Martin, MacIntyre, Donald J. , Malaspina, Dolores , Manchia, Mirko , Martinsson, Lina , McInnis, Melvin G. , Millischer, Vincent , Morris, Derek W. , Olsen, Catherine M. , Pardiñas, Antonio F. , Pfennig, Andrea , Quested, Digby J. , Rivera, Margarita , Sindermann, Lisa , Siskind, Dan , Artigas, María Soler , Stein, Frederike , Świątkowska, Beata , Thorp, Jackson G. , Toma, Claudio , Tondo, Leonardo , Tooney, Paul A. , Walters, James , Young, Allan H. , Zillich, Lea , Adolfsson, Rolf , Alfredsson, Lars , Backlund, Lena , Baune, Bernhard , Bellivier, Frank , Biernacka, Joanna M. , Blackwood, Douglas , Breen, Gerome , Carr, Vaughan J , Cichon, Sven , Corvin, Aiden , Dannlowski, Udo , Esko, Tõnu , Étain, Bruno , Fullerton, Janice M. , Gershon, Elliot S. , Goes, Fernando , Green, Melissa J. , Hauser, Joanna , Henskens, Frans A , Hjerling‐Leffler, Jens , Jones, Ian Richard , Jones, Lisa Anne , Kahn, René S. , Kelsoe, John R , Kircher, Tilo , Kirov, George , Kobayashi, Nene, Leboyer, Marion , Li, Qingqin S. , Lissowska, Jolanta , Loughland, Carmel M. , Luykx, Jurjen J. , Martin, Nicholas G. , Mathews, Carol A. , Mayoral, Fermín , McElroy, Susan L. , McIntosh, Andrew M. , Medland, Sarah E. , Mitchell, Philip B , Morken, Gunnar , Möser, Chiara, Nievergelt, Caroline M , Nurnberger, John I , Nöthen, Markus M. , O‘Donovan, Michael , Olsson, Tomas , Owen, Michael J. , Pantelis, Christos , Pato, Michele T. , Patrinos, George P. , Ramos‐Quiroga, Josep Antoni , Reininghaus, Eva , Ribasés, Marta , Rietschel, Marcella , Ripke, Stephan , Rouleau, Guy Armand , Schall, Ulrich , Schofield, Peter R. , Schulze, Thomas , Scott, Rodney J. , Serretti, Alessandro , Smoller, Jordan W. , Squassina, Alessio , Streit, Fabian , Turecki, Gustavo , Vieta, Eduard , Vincent, John B. , Weickert, Cynthia Shannon , Weickert, Thomas Wesley , Whiteman, David C. , Alda, Martin , Grigoroiu‐Serbânescu, Maria , McMahon, Francis J. , Andreassen, Ole A. , McQuillin, Andrew

No container title available | June 25, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1101/2025.06.23.25330155 | PMID 40666370 Get It

ABSTRACT Bipolar disorder’s (BD) clinical heterogeneity has an unresolved genetic basis. We meta-analyzed genome-wide association studies (GWAS) of 16 BD subphenotypes in 226,032 individuals from 57 cohorts (38,022 cases); 10 advanced to multivariate and multi-trait analyses. Four factors (compulsive, psychotic, dysregulated, internalizing) explained 82.8% of shared genetic variance. BD1 and BD2 loaded on distinct factors despite a high genetic correlation; 87.0% of common-factor loci were significant in neither subtype. Unipolar mania aligned with psychosis over internalizing, and was distinguishable from BD1, and rapid cycling showed heritable cross-domain liability. We identified 356 risk loci, 158 novel, including the first univariate-GWAS associations for psychosis, unipolar mania, rapid cycling and schizoaffective disorder—and 249 credible genes (89 high-confidence), 12 with approved-drug or clinical-phase annotations. Cell-type association showed a midbrain dopaminergic–GABAergic gradient along the psychotic factor. BD’s genetic architecture appears hierarchical—a general liability resolving into dimensions of course and comorbidity beyond diagnostic subtypes.
Integrated analysis of in vivo retinal perivascular amyloid imaging and cognition
Gonzales, Mitzi M. , Fuchs, Dieu‐Trang, Doustar, Jonah , Koronyo, Yosef, Sherman, Dale , Lyden, Patrick D. , Sicotte, Nancy L. , Black, Keith L. , Dumitrascu, Oana M. , Gonzales, Mitzi , Kremen, Sarah , Koronyo‐Hamaoui, Maya

Alzheimer's & Dementia | June 17, 2025 | Volume: 21 | Issue: 6 | Pages: No page available

10.1002/alz.70366 | PMID 40528288 Get It

AbstractINTRODUCTIONGiven the close interactions between the retina and the brain, retinal amyloid imaging may serve as a diagnostic and prognostic tool for Alzheimer's disease and related dementias. This retrospective study investigated multivariable associations between retinal perivascular amyloid and cognitive domains.METHODSIntegrated analysis of retinal perivascular amyloid imaging, neuropsychological assessment, and brain magnetic resonance imaging in adults with and without cognitive impairment (N = 26; mean age: 65 ± 7 years; 50% female). Correlations between perivascular amyloid plaque burden and cognitive domains were evaluated with linear regression and interactions with hippocampal volumetry were explored.RESULTSHigher perivascular and periarteriolar amyloid plaque count in the secondary small and tertiary branches were associated with poorer verbal and visual memory in this cohort (p = 0.005–0.009). Higher perivascular amyloid burden interacted with hippocampal atrophy to worsen visual memory (p = 0.033).DISCUSSIONRetinal perivascular amyloid may serve as a non‐invasive marker for cognitive impairment and may shed insight into pathological changes in the brain.Highlights In vivo retinal perivascular amyloid plaque counts are associated with poorer memory. Retinal perivascular amyloid interacted with hippocampal atrophy to worsen memory. Retinal amyloid imaging is a potential biomarker for neurodegenerative diseases.