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2153 citation(s) found for "Ma, Anna".

Long-term effects of premenopausal bilateral oophorectomy with or without hysterectomy on physical aging and chronic medical conditions
Kapoor, Ekta , Geske, Jennifer R. , Fields, Julie A. , Morrow, Melissa M. , Faubion, Laura L. , Hofrenning, Ekaterina I. , Bailey, Kent R. , Rocca, Walter A. , Kantarci, Kejal , Morrow, Melissa M , Kantarci, Kejal , Geske, Jennifer , Mielke, Michelle M. , LeBrasseur, Nathan K. , Winham, Stacey J. , Castillo, Anna

Menopause | September 12, 2023 | Volume: 30 | Issue: 11 | Pages: 1090-1097

10.1097/gme.0000000000002254 | PMID 37699239 Get It

Abstract Objective We examined the long-term effects of premenopausal bilateral oophorectomy (PBO) with or without concurrent or preceding hysterectomy on physical and cognitive function and on odds of chronic conditions. Methods We enrolled 274 women with PBO with or without concurrent or preceding hysterectomy and 240 referents aged 55 years and older who were residents of Olmsted County, MN as of the PBO or index date. Chronic conditions were assessed via medical record abstraction. Cognitive diagnoses were based on neurocognitive testing. A physical function assessment included measures of strength and mobility. Multivariable regression models compared characteristics for women with PBO <46 years, PBO 46–49 years, and referent women with adjustments for age and other confounders. Results The clinical visits (median age, 67 years) were a median of 22 years after the PBO or index date. Of 274 women with PBO, 161 (59%) were <46 years at PBO and 113 (41%) were 46–49 years. Compared with referents, women with a history of PBO <46 years had increased odds of arthritis (odds ratio [OR], 1.64; 95% confidence interval [CI], 1.06–2.55), asthma (OR, 1.74; 95% CI, 1.03–2.93), obstructive sleep apnea (OR, 2.00; 95% CI, 1.23–3.26), and bone fractures (OR, 2.86; 95% CI, 1.17–6.98), and walked a shorter mean distance on a 6-minute walk test ( b = −18.43; P = 0.034). Compared with referents, women with a history of PBO at age 46–49 years had increased odds of arthritis (OR, 1.92; 95% CI, 1.16–3.18) and obstructive sleep apnea (OR, 2.21; 95% CI, 1.33–3.66). There were no significant differences in cognitive status in women with PBO compared with referents. Conclusions Women with a history of PBO with or without concurrent or preceding hysterectomy, especially at age <46 years, have more chronic conditions in late mid-life compared with referents.
Bartter Syndrome: A Systematic Review of Case Reports and Case Series
Qasba, Rakhtan K. , Bucharles, Anna Carolina Flumignan, Piccoli, Maria Victoria Ferreira , Sharma, Pranjal , Banga, Akshat , Kamaraj, Balakrishnan , Kumar, Harshadayani Jagadish, Happy, Mahika Afrin, Qasba, Ruman K. , Jagirdhar, Gowthami Sai Kogilathota , Essar, Mohammad Yasir , Garg, Piyush , Reddy, Shiva Teja, Rama, Kaanthi , Surani, Salim , Kashyap, Rahul , Qasba, Ruman K , Essar, Mohammad Yasir , Garg, Piyush , Surani, Salim , Kashyap, Rahul , Qasba, Rakhtan K , Nawaz, Faisal A.

Medicina | September 11, 2023 | Volume: 59 | Issue: 9 | Pages: 1638

10.3390/medicina59091638 | PMID 37763757 Get It

Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
Implementing a Sports Ultrasound Curriculum in Undergraduate Medical Education
Schroeder, Allison N. , Amin, Idris, Bowen, Brady J., Callender, Shelley Street, Ferderber, Megan , Kerr, Hamish , Phillips, Shawn, Romero, Joshua , Rudolph, Lauren, Vidlock, Kathryn , Waterbrook, Anna L., Kruse, Ryan C. , Bowen, Brady J.

Current Sports Medicine Reports | September 6, 2023 | Volume: 22 | Issue: 9 | Pages: 328-335

10.1249/jsr.0000000000001099 | PMID 37678352 Get It

Abstract The utilization of sports ultrasound in the clinical practice of sports medicine physicians is growing rapidly. Simultaneously, ultrasound is being increasingly implemented as a teaching tool in undergraduate medical education. However, a sports ultrasound curriculum for medical students has not been previously described. In this article, we describe methods as well as barriers to implementing a sports ultrasound curriculum at the medical school level. Recommended content for the curriculum also is discussed. While educational goals and resources will vary among institutions, this article may serve as a general roadmap for the creation of a successful curriculum.
Classification and Predictors of Right Ventricular Functional Recovery in Pulmonary Arterial Hypertension
Rischard, Franz , Bernardo, Roberto J. , Vanderpool, Rebecca , Kwon, Deborah , Acharya, Tushar , Park, Margaret , Katrynuik, Austin, Insel, Michael , Kubba, Saad , Badagliacca, Roberto , Larive, A. Brett, Naeije, Robert , Garcia, Joe G. N. , Beck, Gerald J. , Erzurum, Serpil C. , Hill, Nicholas S. , Wilcox, Jennifer , Rischard, Franz P , Vanderpool, Rebecca R , Kwon, Deborah H , Park, Margaret M , Frantz, Robert P , Hemnes, Anna , Hill, Nicholas S , Horn, Evelyn M , Leopold, Jane A , Rosenzweig, Erika B , Tang, W H Wilson , Wilcox, Jennifer D , Frantz, Robert P. , Hassoun, Paul M. , Hemnes, Anna R. , Horn, Evelyn M. , Leopold, Jane A. , Rosenzweig, Erika B. , Tang, W.H. Wilson

Circulation: Heart Failure | September 4, 2023 | Volume: 16 | Issue: 10 | Pages: No page available

10.1161/circheartfailure.123.010555 | PMID 37664964 Get It

Background: Normative changes in right ventricular (RV) structure and function have not been characterized in the context of treatment-associated functional recovery (RV functional recovery [RVFnRec]). The aim of this study is to assess the clinical relevance of a proposed RVFnRec definition. Methods: We evaluated 63 incident patients with pulmonary arterial hypertension by right heart catheterization and cardiac magnetic resonance imaging at diagnosis and cardiac magnetic resonance imaging and invasive cardiopulmonary exercise testing following treatment (≈11 months). Sex, age, ethnicity matched healthy control subjects (n=62) with 1-time cardiac magnetic resonance imaging and noninvasive cardiopulmonary exercise testing were recruited from the PVDOMICS (Redefining Pulmonary Hypertension through Pulmonary Vascular Disease Phenomics) project. We examined therapeutic cardiac magnetic resonance imaging changes relative to the evidence-based peak oxygen consumption (VO 2peak )>15 mL/(kg·min) to define RVFnRec by receiver operating curve analysis. Afterload was measured as mean pulmonary artery pressure, resistance, compliance, and elastance. Results: A drop in RV end-diastolic volume of −15 mL best defined RVFnRec (area under the curve, 0.87; P =0.0001) and neared upper 95% CI RV end-diastolic volume of controls. This cutoff was met by 22 out of 63 (35%) patients which was reinforced by freedom from clinical worsening, RVFnRec 1 out of 21 (5%) versus no RVFnRec 17 out of 42, 40% (log-rank P =0.006). A therapy-associated increase of 0.8 mL/mm Hg in compliance had the best predictive value of RVFnRec (area under the curve, 0.76; [95% CI, 0.64–0.88]; P =0.001). RVFnRec patients had greater increases in stroke volume, and cardiac output at exercise. Conclusions: RVFnRec defined by RV end-diastolic volume therapeutic decrease of −15 mL predicts exercise capacity, freedom from clinical worsening, and nears normalization. A therapeutic improvement of compliance is superior to other measures of afterload in predicting RVFnRec. RVFnRec is also associated with increased RV output reserve at exercise.
International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors
Adappa, Nithin D. , Beswick, Daniel M. , London, Nyall R. , Su, Shirley Y. , Wang, Marilene B. , Alexiev, Borislav A. , Antognoni, Paolo , Alonso‐Basanta, Michelle , Batra, Pete S., Bhayani, Mihir K. , Bell, Diana , Betz, Christian , Callejas, Claudio , Casiano, Roy R. , Chatzinakis, Vasileios , Chen, Simon , Chowdhury, Naweed I. , Citardi, Martin J. , Cohen, Marc A. , Dagan, Roi , Dalfino, Gianluca , Dassi, Camila , Almeida, John R. de , Tos, Angelo Paolo Dei , DelGaudio, John M. , Ebert, Charles S. , Eloy, Jean Anderson , Evans, James J., Fang, Christina H. , Farrell, Nyssa Fox , Ferrari, Marco , Fischbein, Nancy J. , Folbe, Adam J. , Fox, Meha G. , Lund, Valerie J. , Gallia, Gary L. , Gardner, Paul A. , Getz, Anne E., Govindaraj, Satish, Gray, Stacey T. , Gross, Bradley A. , Guo, Ruifeng , Ha, Patrick K. , Halderman, Ashleigh A. , Hanna, Ehab Y., Harvey, Richard J. , Hernandez, Stephen, Hopkins, Claire , Huang, Zhigang , Huang, Zhenxiao , Humphreys, Ian M. , Hwang, Peter H. , Iloreta, Alfred Marc, Ishii, Masaru , Jafari, Aria , Kennedy, David W. , Khan, Mohemmed, Kimple, Adam J. , Kingdom, Todd T. , Knisely, Anna, Kuo, Ying‐Ju , Lamarre, Eric , Lan, Ming‐Ying , Le, Hien , Lee, Nancy Y. , Lee, Jivianne K., Lee, Victor , Levine, Corinna G. , Lin, Jin‐Ching , Lin, Derrick T., Locke, Tran B. , Luong, Amber , Magliocca, Kelly R. , Matnjani, G., Meço, Cem , Michel, Loren S. , Na'ara, Shorook, Nicolai, Piero , Nuss, Daniel W. , Nyquist, Gurston , Oakley, Gretchen M. , Omura, Kazuhiro , Orlandi, Richard R. , Otori, Nobuyoshi , Papagiannopoulos, Peter , Patel, Zara M. , Pfister, David G. , Rabinowitz, Mindy, Sanusi, Olabisi , Sargi, Zoukaa , Schafhausen, Philippe, Schlosser, Rodney J. , Sedaghat, Ahmad R. , Senior, Brent A. , Shrivastava, Raj , Sindwani, Raj , Smith, Timothy L. , Smith, Kristine A. , Solares, C. Arturo , Stamm, Aldo Cassol , Stölzel, Katharina , Sumer, Baran D. , Tajudeen, Bobby A. , Thorp, Brian D. , Tsang, Raymond K. , VanKoevering, Kyle K. , Welch, Kevin C. , Wise, Sarah K. , Witterick, Ian , Won, Tae‐Bin , Wong, Stéphanie , Woodworth, Bradford A. , Wormald, Peter‐John , Zhou, Bing , Adappa, Nithin D. , Chapurin, Nikita , Ayoub, Noel , Bitner, Benjamin F. , Chang, Michael T. , Kuan, Edward C , Wang, Eric W , Beswick, Daniel , Wang, Marilene B , Alt, Jeremiah A , Bleier, Benjamin , Callejas, Claudio , Choby, Garret , Dalfino, Gianluca , Eloy, Jean Anderson , Fang, Christina H , Farrell, Nyssa F , Ferrari, Marco , Georgalas, Christos , Grayson, Jessica W , Harvey, Richard J , Holtzman, Adam L. , Hopkins, Claire , Humphreys, Ian M , Hwang, Peter H , Jafari, Aria , Kimple, Adam J , Lal, Devyani , Lan, Ming-Ying , Luong, Amber U , Meço, Cem , Omura, Kazuhiro , Orlandi, Richard , Patel, Zara , Sedaghat, Ahmad R , Senior, Brent A , Smith, Timothy L , Smith, Kristine , Snyderman, Carl H , Tong, Charles C L , van Zele, Thibaut , Won, Tae-Bin , Woodworth, Bradford A , Yao, William C , Yeh, Chien-Fu , Zhou, Bing , Schlosser, Rodney J , Bitner, Benjamin , Guo, Ruifeng , Chang, Michael T , Su, Shirley Y , Locke, Tran Bao , Adappa, Nithin D. , Abuzeid, Waleed M. , Alt, Jeremiah A. , Bernal‐Sprekelsen, Manuel , Blay, Jean‐Yves , Bleier, Benjamin S. , Bonilla‐Velez, Juliana , Carrau, Ricardo L. , Castelnuovo, Paolo , Chandra, Rakesh Kumar , Chiu, Alexander G. , Choby, Garret , Dallan, Iacopo , El‐Sayed, Ivan H. , Fokkens, Wytske Johanna , Geltzeiler, Mathew , Grayson, Jessica W. , Gross, Bradley , Grube, Jordon G. , Hanna, Ehab Y., Ivan, Michael E , Khan, Mohemmed N., Lal, Devyani , Lechner, Matt , Lobo, Brian C. , Markovic, Svetomir N. , McKean, Erin L. , Mendenhall, William M , Phan, Jack , Psaltis, Alkis J. , Ramanathan, Murugappan , Rimmer, Ryan , Rosen, Marc R , Sreenath, Satyan B , Šurda, Pavol , Thompson, Lester D.�R. , Turner, Justin H. , Turri‐Zanoni, Mario , Udager, Aaron M , Yao, William C.

International Forum of Allergy & Rhinology | September 2, 2023 | Volume: 14 | Issue: 2 | Pages: 149-608

10.1002/alr.23262 | PMID 37658764 Get It

Abstract Background Sinonasal neoplasms, whether benign and malignant, pose a significant challenge to clinicians and represent a model area for multidisciplinary collaboration in order to optimize patient care. The International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors (ICSNT) aims to summarize the best available evidence and presents 48 thematic and histopathology‐based topics spanning the field. Methods In accordance with prior International Consensus Statement on Allergy and Rhinology documents, ICSNT assigned each topic as an Evidence‐Based Review with Recommendations, Evidence‐Based Review, and Literature Review based on the level of evidence. An international group of multidisciplinary author teams were assembled for the topic reviews using the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses format, and completed sections underwent a thorough and iterative consensus‐building process. The final document underwent rigorous synthesis and review prior to publication. Results The ICSNT document consists of four major sections: general principles, benign neoplasms and lesions, malignant neoplasms, and quality of life and surveillance. It covers 48 conceptual and/or histopathology‐based topics relevant to sinonasal neoplasms and masses. Topics with a high level of evidence provided specific recommendations, while other areas summarized the current state of evidence. A final section highlights research opportunities and future directions, contributing to advancing knowledge and community intervention. Conclusion As an embodiment of the multidisciplinary and collaborative model of care in sinonasal neoplasms and masses, ICSNT was designed as a comprehensive, international, and multidisciplinary collaborative endeavor. Its primary objective is to summarize the existing evidence in the field of sinonasal neoplasms and masses.
Harassment in the headache field: a global web-based cross-sectional survey
Boer, Irene de , Buse, Dawn C. , Tassorelli, Cristina , Pozo‐Rosich, Patricia , Forum, on behalf of the International Headache Society Women’s Leadership, de Boer, Irene , Tassorelli, Cristina , Pozo-Rosich, Patricia , Ambrosini, Anna , Singh, Rashmi B. Halker , Baykan, Betül , Jensen, Rigmor , Terwindt, Gisela M. , Forum, on behalf of the International Headache Society Women’s Leadership

Cephalalgia | August 31, 2023 | Volume: 43 | Issue: 8 | Pages: No page available

10.1177/03331024231193099 | PMID 37652444 Get It

Background Matters of workplace harassment are an important issue. This issue needs to be recognized and studied to prevent occurrences. These important sensitive areas of effective workplace management are increasingly gaining more interest. We aimed to identify the prevalence of workplace sexual, verbal and physical harassment among headache professionals. Methods We adopted a cross‑sectional exploratory survey approach with quantitative design. The survey was distributed electronically among headache healthcare and research professionals globally through the International Headache Society (IHS). Results Data were obtained from 579 respondents (55.3%; 320/579 women). A large percentage of respondents (46.6%; 270/579) had experienced harassment; specifically, 16.1% (93/578) reported sexual harassment, 40.4% (234/579) verbal harassment and 5.5% (32/579) physical harassment. Women were almost seven times more likely to experience sexual harassment compared to men (odds ratio = 6.8; 95% confidence interval = 3.5–13.2). Although women did also more frequently report other types of harassment, this was not statistically significant (odds ratio = 1.4; 95% confidence interval = 1.0–2.0). Conclusions Lifetime exposure to workplace harassment is prevalent among headache professionals, especially in women. The present study uncovers a widespread issue and calls for strategies to be implemented for building a healthy and safe workplace environment.
Introduction to concept inventories for medical physics education
Cetnar, Ashley J. , Besemer, Abby, Bry, Victoria, Buckey, C, Burmeister, Jay , Rodrigues, Anna , Schubert, Leah , Speidel, Michael A. , Sutlief, Steven , Yu, Amy S. , Buckey, Courtney R, Yu, Amy Shu-Jung , Bry, Victoria N.

Journal of Applied Clinical Medical Physics | August 30, 2023 | Volume: 24 | Issue: 10 | Pages: No page available

10.1002/acm2.14130 | PMID 37646429 Get It

AbstractConcept inventories are multiple choice exams designed with the intention to test core concepts on specific subjects and evaluate common misconceptions. These tests serve as a useful tool in the classroom to assess value added by the instructor's educational methods and to better understand how students learn. They can provide educators with a method to evaluate their current teaching strategies and to make modifications that enhance student learning and ultimately elevate the quality of medical physics education. The use of concept inventories in introductory college physics courses revealed important gaps in conceptual understanding of physics by undergraduate students and motivated a shift of physics teaching towards more effective methods, such as active learning techniques. The goal of this review is to introduce medical physicists to concept inventories as educational evaluation tools and discuss potential applications to medical physics education by development through multi‐institutional collaboration.
Impact of Risk Factors on COVID‐19 Outcomes in Unvaccinated People With Rheumatic Diseases: A Comparative Analysis of Pandemic Epochs Using the COVID‐19 Global Rheumatology Alliance Registry
Yazdany, Jinoos , Ware, Anna , Wallace, Zachary S. , Bhana, Suleman , Grainger, Rebecca , Hachulla, É. , Richez, Christophe , Cacoub, P. , Hausmann, Jonathan S. , Sirotich, Emily , Jacobsohn, Lindsay, Strangfeld, Anja , Mateus, Elsa F , Kearsley‐Fleet, Lianne , Schaefer, Martin, Ribeiro, Sandra Lúcia Euzébio , Müller‐Ladner, Ulf , Fraga, Vanessa , Rodrigues, Ana Maria , Sparks, Jeffrey A. , Tidblad, Liselotte , Martínez‐Martínez, Marco Ulises , Xavier, Ricardo Machado , Pera, Mariana , Carrara, Greta , Scirè, Carlo Alberto , Zanetti, Anna , Machado, Pedro , Hachulla, Eric , Cacoub, Patrice , Hyrich, Kimme L , Gossec, Laure , Lawson-Tovey, Saskia , Kearsley-Fleet, Lianne , Schaefer, Martin , Ribeiro, Sandra Lúcia Euzébio , Al-Emadi, Samar , Hasseli, Rebecca , Specker, Christof , Schulze-Koops, Hendrik , Bernardes, Miguel , Fraga, Vanessa Machado , Rodrigues, Ana Maria , Sparks, Jeffrey A , Ljung, Lotta , Di Giuseppe, Daniela , Tidblad, Liselotte , Wise, Leanna M , Duarte-García, Alí , Ugarte-Gil, Manuel F , Colunga-Pedraza, Iris J , Martínez-Martínez, Marco Ulises , Alpízar-Rodríguez, Deshiré , Isnardi, Carolina A , Pera, Mariana , Pons-Estel, Guillermo , Gianfrancesco, Milena A , Carrara, Greta , Scirè, Carlo Alberto , Zanetti, Anna , Machado, Pedro M , Montgomery, Anna , Grainger, Rebecca , Hausmann, Jonathan S , Yazdany, Jinoos , Xavier, Ricardo M , Sirotich, Emily , Strangfeld, Anja , Mateus, Elsa F , Liew, Jean W. , Hyrich, Kimme L , Gossec, Laure , Carmona, Loreto , Lawson‐Tovey, Saskia , Hasseli, Rebecca , Wise, Leanna , Duarte‐García, Alí , Ugarte‐Gil, Manuel F. , Colunga-Pedraza, I. J. , Alpizar-Rodriguez, D. , Pons‐Estel, Guillermo , Izadi, Zara

Arthritis Care & Research | August 29, 2023 | Volume: 76 | Issue: 2 | Pages: 274-287

10.1002/acr.25220 | PMID 37643903 Get It

ObjectiveApproximately one third of individuals worldwide have not received a COVID‐19 vaccine. Although studies have investigated risk factors linked to severe COVID‐19 among unvaccinated people with rheumatic diseases (RDs), we know less about whether these factors changed as the pandemic progressed. We aimed to identify risk factors associated with severe COVID‐19 in unvaccinated individuals in different pandemic epochs corresponding to major variants of concern.MethodsPatients with RDs and COVID‐19 were entered into the COVID‐19 Global Rheumatology Alliance Registry between March 2020 and June 2022. An ordinal logistic regression model (not hospitalized, hospitalized, and death) was used with date of COVID‐19 diagnosis, age, sex, race and/or ethnicity, comorbidities, RD activity, medications, and the human development index (HDI) as covariates. The main analysis included all unvaccinated patients across COVID‐19 pandemic epochs; subanalyses stratified patients according to RD types.ResultsAmong 19,256 unvaccinated people with RDs and COVID‐19, those who were older, male, had more comorbidities, used glucocorticoids, had higher disease activity, or lived in lower HDI regions had worse outcomes across epochs. For those with rheumatoid arthritis, sulfasalazine and B‐cell–depleting therapy were associated with worse outcomes, and tumor necrosis factor inhibitors were associated with improved outcomes. In those with connective tissue disease or vasculitis, B‐cell–depleting therapy was associated with worse outcomes.ConclusionRisk factors for severe COVID‐19 outcomes were similar throughout pandemic epochs in unvaccinated people with RDs. Ongoing efforts, including vaccination, are needed to reduce COVID‐19 severity in this population, particularly in those with medical and social vulnerabilities identified in this study.
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
Guen, Yann Le , Luo, Guo , Damotte, Vincent , Jansen, Iris E. , Nicolas, Aude , Rojas, Itziar de, Bellenguez, Céline , Lian, Michelle Mulan , Parveen, Kayenat, Morizono, Takashi, Park, Hyeonseul, Grenier‐Boley, Benjamin , Naito, Tatsuhiko , Talyansky, Seth D., Yogeshwar, Selina , Sempere, Vicente Peris, Satake, Wataru , Álvarez, Victoria , Arosio, Beatrice , Boland, Anne , Daniele, Antonio , Darling, D.H., Dichgans, Martin , Dufouil, Carole , Düzel, Emrah , García‐Ribas, Guillermo, García‐Alberca, José María , García-González, Pablo, Giedraitis, Vilmantas , Graff, Caroline , Grünblatt, Edna , Hausner, Lucrezia , Jung, Yoo Jin , Deckert, Jürgen, Kern, Silke , Kuulasmaa, Teemu , Lee, Kun Ho , Lin, Ling , Masullo, Carlo , Mehrabian, Shima , Mendonça, Alexandre de , Boada, Merçé , Mir, Pablo , Moreno, Fermín , Nicolas, Gaël , Niida, Shumpei , Nordestgaard, Børge G. , Papenberg, Goran, Papma, Janne M., Pástor, Pau , Peters, Oliver , Popp, Julius , Molina‐Porcel, Laura , Puerta, Raquel , Pérez‐Tur, Jordi , Ramakers, Inez H.G.B. , Real, Luís Miguel , Riedel‐Heller, Steffi G. , Rodríguez‐Rodríguez, Eloy , Ross, Owen A. , Scarmeas, Nikolaos , Schneider, Anja , Solfrizzi, Vincenzo , Spalletta, Gianfranco , Tan, Eng‐King , Tegos, Thomas, Thomassen, Jesper Qvist , Tremolizzo, Lucio , Verhey, Frans, EADB, group, GR@ACE study, DemGene, EADI, GERAD, Blennow, Kaj , He, Zihuai , Jessen, Frank , Kehoe, Patrick G. , Duin, Cornelia van, Sánchez‐Juan, Pascual , Zettergren, Anna , Okada, Yukinori , Rossi, Giacomina, Gim, Jungsoo , Sims, Rebecca, Ramı́rez, Alfredo , Lambert, Jean‐Charles , Greicius, Michael D. , Mignot, Emmanuel , Moreno–Grau, Sonia , Rojas, Itziar de, Prokic, Ivana, Aarsland, Dag, García‐González, Pablo , Abdelnour, Carla , Armstrong, Nicola J. , Anthoula, Tsolaki, Archetti, Silvana, Pastor, Alfonso Arias, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa , Baquero, Miquel , Pastor, Ana Belén , Besse, Céline , Bizarro, Alessandra, Blesa, Rafael , Bossù, Paola , Brusco, Luis Ignacio , Buiza‐Rueda, Dolores, Bürger, Katharina , Burholt, Vanessa, Cecchetti, Roberta, Chillotti, Caterina , Ciccone, Simona, Claassen, Jurgen A.H.R., Clark, Christopher , Costantini, Emanuele Maria , Daian, Delphine , Dartigues, Jean‐François, Escott-Price, Valentina, Ewers, Michael , Fernández‐Fuertes, Marta , Ferreira, Catarina B. , Fin, Bertrand, Fließbach, Klaus , Franco-Macías, Emlio, García-González, Pablo, García‐Madrona, Sebastián, Giegling, Ina, Giorgio, Giaccone, González-Pérez, Antonio, Grande, Giulia , Green, Emma , Grimmer, Timo, Hardy, John, Hartmann, Annette M. , Harwood, Janet , Helisalmi, Seppo , Hernández, Isabel, Hoffmann, Per, Vilas, Raquel Huerto, Hulsman, Marc , Johansson, Charlotte , Kilander, Lena, Ståhlbom, Anne Kinhult, Koivisto, Anne M. , Lage, Carmen , Lerch, Ondřej , Munain, Adolfo Lopez de, Löwemark, Malin, Luckcuck, Lauren, Maier, Wolfgang, Marco, Spallazzi, Montes, Ángel Martín, Rodríguez, Carmen Martínez, Meggy, Alun, Mendoza, Silvia, Moebus, Susanne, Morelli, Laura , Möthen, Markus M., Muchnik, Carolina , Orsini, Michela, Péricard, Pierre , Piñol-Ripoll, Gerard, Polak, Thomas, Quenez, Olivier , Rábano, Alberto , Ramakers, Inez, Riederer, Peter, Rongve, Arvid, Allende, Irene Rosas, Rujescu, Dan, Sakka, Paraskevi , Sánchez‐Arjona, María Bernal, Sando, Sigrid Botne , Scamosci, Michela, Scherbaum, Norbert, Scherer, Martin, Schott, Jonathan M., Shadrin, Alexey A, Skrobot, Olivia Anna, Solfrizzi, Vincenzo, Spottke, Annika , Stordal, Eystein , Tartan, Juan Pablo, Traykov, Latchezar , Tybjærg‐Hansen, Anne, Ullgren, Abbe, Ulstein, Ingun, Dongen, Jasper Van , Wallon, David, Windle, Gill, Woods, Bob , Zulaica, Miren , Laczó, Jan , Maťoška, Václav , Piras, Federica, Ciullo, Valentina , Shofany, Jacob, Andreoni, Simona, Zompo, Maria Del, Bastiani, Patrizia, Natunen, Teemu , Antikaínen, Riitta , Abraham, Richard, Al-Chalabi, Ammar, Brayne, Carol, Brown, Kristelle S., Collinge, John, Craig, David W. , Deloukas, Pangiotis, Gerrish, Amy, Gwilliam, Rhian, Hardy, John , Hollingworth, Paul, Johnston, Jarret A., Jones, Lesley , Lawlor, Brian, Lynch, Aoibhinn, McQuillin, Andrew, Owen, Michael J., Passmore, Peter , Proitsi, Petra, Rossor, Martin, Gurling, Hugh, Todd, Stephen, Mummery, Catherine J. , Ryan, Nathalie, Lacidogna, Giordano , Adarmes-Gómez, Ad, Mauleón, Ana , Pancho, Ana, Gailhajenet, A., Lafuente, Asunción, Martín, Elvira, Pelejà, Esther, Carrillo, F, Merlín, Isabel Sastre, Garrote-Espina, L. , Carrión‐Claro, Mario, Marín, María Esmeralda Arreola , Labrador, Ma, Buendía, Mar, Guitart, Marina, Moreno, Mariona, Ibarria, Marta, Periñán, Mt, Aguilera, Núria , Gómez-Garre, P, Escuela, R, Pineda-Sanchez, R., Vigo-Ortega, R, Preckler, Sílvia , Rodrigo‐Herrero, Silvia , Diego, Susana, Salvadori, Nicola, Chipi, Elena , Laske, Christoph , Janowitz, Daniel , Anastasiou, Anna, Parveen, Kayenat, López‐García, Sara , Antonell, Anna , Belezhanska, Diyana , Solís, Patricia , Medel, Nancy , Lisso, Julieta, Sevillano, Zulma, 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Proceedings of the National Academy of Sciences | August 29, 2023 | Volume: 120 | Issue: 36 | Pages: No page available

10.1073/pnas.2302720120 | PMID 37643212 Get It

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1 *04 subtypes best accounted for the association, strongest with HLA-DRB1 *04:04 and HLA-DRB1 *04:07, and intermediary with HLA-DRB1 *04:01 and HLA-DRB1 *04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1 *04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1 *04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues.
Development of an Electronic Health Record–Based Clinical Decision Support Tool for Patients With Lynch Syndrome
Lau‐Min, Kelsey S. , Bleznuck, Joseph, Wollack, Colin, McKenna, Danielle , Long, Jessica M. , Hubert, Anna P. , Johnson, Mariah, Rochester, Shavon E., Constantino, Gillain , Dudzik, Christina , Doucette, Abigail , Wangensteen, Kirk J. , Landgraf, Jeffrey, Chen, Jessica , Nathanson, Katherine L. , McKenna, Danielle B , Wangensteen, Kirk J , Domchek, Susan M , Nathanson, Katherine L , Katona, Bryson W , Domchek, Susan M.

JCO Clinical Cancer Informatics | August 28, 2023 | Volume: No volume available | Issue: 7 | Pages: No page available

10.1200/cci.23.00024 | PMID 37639653 Get It

PURPOSE To develop an electronic health record (EHR)–based clinical decision support (CDS) tool to promote guideline-recommended cancer risk management among patients with Lynch syndrome (LS), an inherited cancer syndrome that confers an increased risk of colorectal and other cancer types. MATERIALS AND METHODS We conducted a cross-sectional study to determine the baseline prevalence and predictors of guideline-recommended colonic surveillance and annual genetics program visits among patients with LS. Multivariable log-binomial regressions estimated prevalence ratios (PRs) of cancer risk management adherence by baseline sociodemographic and clinical characteristics. These analyses provided rationale for the development of an EHR-based CDS tool to support patients and clinicians with LS-related endoscopic surveillance and annual genetics program visits. The CDS leverages an EHR platform linking discrete genetic data to LS Genomic Indicators, in turn driving downstream clinician- and patient-facing CDS. RESULTS Among 323 patients with LS, cross-sectional adherence to colonic surveillance and annual genetics program visits was 69.3% and 55.4%, respectively. Patients with recent electronic patient portal use were more likely to be adherent to colonic surveillance (PR, 1.67; 95% CI, 1.11 to 2.52). Patients more recently diagnosed with LS were more likely to be adherent to annual genetics program visits (PR, 0.58; 95% CI, 0.44 to 0.76 for 2-4 years; PR, 0.62; 95% CI, 0.51 to 0.75 for ≥4 compared with <2 years). Our EHR-based CDS tool is now active for 421 patients with LS throughout our health system. CONCLUSION We have successfully developed an EHR-based CDS tool to promote guideline-recommended cancer risk management among patients with LS.