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2121 citation(s) found for "Ma, Julie".

Caregiver experiences after the death of a person with dementia with Lewy bodies: A mixed-methods analysis
Armstrong, Melissa J. , Dai, Yunfeng , LaBarre, Brian , Wang, Tingchang , Sovich, Kaitlin , Jury, Hannah F , Henriquez, Adolfo M , Maixner, Susan M. , Paulson, Henry L. , Fields, Julie A. , Lunde, Angela , Manning, Carol A. , Taylor, Angela , Dai, Yunfeng , LaBarre, Brian , Wang, Tingchang , Jury, Hannah F , Henriquez, Adolfo M , Maixner, Susan M , Lunde, Angela M , Boeve, Brad , Baker, Zachary G , Paulson, Henry L , Armstrong, Melissa J , Wollney, Easton N. , Li, Zhigang , Galvin, James E. , Boeve, Bradley F.

Journal of Alzheimer’s Disease | August 14, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1177/13872877251365218 | PMID 40808538 Get It

Background Dementia with Lewy bodies (DLB) is a common degenerative dementia, but no studies investigate bereaved caregiver experiences. Objective To investigate the experiences of caregivers three months after the death of persons with DLB using a mixed-methods approach. Methods Dyads of individuals with moderate-advanced DLB and their primary informal caregivers were followed prospectively every 6 months until the person with DLB died. Caregivers completed a study visit with questionnaires and a semi-structured interview ∼3 months later. Spearman correlation coefficients and Wilcoxon rank-sum tests evaluated the relationships of post-death measures with pre-death patient and caregiver variables. Thematic analysis was used to analyze the interviews. Results Seventy-three caregivers completed visits (mean 3.5 months post-death). Most of the caregivers were women (82.2%) and spouses (76.7%) or adult children (17.8%). Over 40% had scores indicating risk for clinical depression. Post-death caregiver experiences (depression, quality of life, grief, resilience) correlated with pre-death caregiver experiences. Post-death experiences did not associate with patient characteristics, disease-related symptoms, or healthcare services used in the last 6 months of life. Trajectories for caregiver measures from pre- to post-death visits varied widely. Interview themes included grief and sadness, anger, guilt and regret, relief, appreciation/gratitude, and adjusting to a new normal. Conclusions The finding that pre-death caregiving experiences have the strongest association with post-death experiences emphasizes the critical importance of accessible and evidence-based caregiver support before and after the death of a person with DLB. Research is needed to develop interventions for current and bereaved caregivers of individuals with DLB. Trial registration information NCT04829656 (submitted 2021-03-22).
Reply: The treatment options for de novo perihilar cholangiocarcinoma require more details
Dong, Yawen , Li, Zhihao , Gores, Gregory J. , Heimbach, Julie K. , Smoot, Rory L. , Taner, Timuçin , Starlinger, Patrick , Gores, Gregory J. , Starlinger, Patrick , Smoot, Rory L , Li, Zhihao , Heimbach, Julie K , Dong, Yawen

Hepatology | August 13, 2025 | Volume: 83 | Issue: 5 | Pages: E139-E140

10.1097/hep.0000000000001497 | PMID 40802889 Get It

Body mass index and subsequent fracture risk: a meta-analysis to update FRAX
Harvey, Nicholas C. , Johansson, Helena, McCloskey, Eugène , Liu, Enwu , Åkesson, Kristina , Anderson, Fred, Bager, Cecilie L. , Christiansen, Claus, Cooper, Cyrus , Crandall, Carolyn , Cummings, Steven R. , Dawson‐Hughes, Bess , Eisman, John A. , Fujita, Yuki , Fujiwara, Saeko , Glüer, Claus‐Christian , Guðnason, Vilmundur , Hall, Jill, Huisman, Martijn , Iki, Masayuki , Ish‐Shalom, Sophia, Koromani, Fjorda , Kröger, Heikki , Esfahani, Zahra , McGuigan, Fiona E. , Mellström, Dan, Merlijn, Thomas , Nguyen, Tuan V., Ohlsson, Claes , Pasco, Julie A. , Rivadeneira, Fernando, Schei, Berit , Shiroma, Eric J. , Siggeirsdóttir, Kristín , Swart, Karin M. A. , Tamaki, Junko , Staa, Tjeerd van , Wareham, Nicholas J, Yoshimura, Noriko , Zwart, Marta , Kanis, John A, McCloskey, Eugene V , Åkesson, Kristina E , Biver, Emmanuel , Center, Jacqueline R , Cooper, Cyrus , Crandall, Carolyn J , Dawson-Hughes, Bess , Dufour, Alyssa B , Eisman, John A , Ferrari, Serge , Hans, Didier B. , Iki, Masayuki , Karlsson, Magnus K , Khosla, Sundeep , Kiel, Douglas P , Koromani, Fjorda , Kwok, Timothy , Lamy, Olivier , Larijani, Bagher , McGuigan, Fiona E A , Merlijn, Thomas , Ohlsson, Claes , Orwoll, Eric S , Simonsick, Eleanor Marie , Sund, Reijo , Szulc, Pawel , Tamaki, Junko , Wright, Nicole C , Zillikens, M. Carola , Lorentzon, Mattias , Leslie, William D , Azagra, Rafael , Beaudart, Charlotte , Bischoff‐Ferrari, Heike A. , Biver, Emmanuel , Bruyère, Olivier , Cauley, Jane A. , Chapurlat, Roland D , Silva, José António Pereira da , Díez‐Pérez, Adolfo , Elders, Petra J. M. , Ferrari, Serge , Goldshtein, Inbal , Goltzman, David , Hall, Jill, Hoff, Mari , Hollick, Rosemary J , Jones, Graeme , Khosla, Sundeep , Kiel, Douglas P. , Koh, Woon‐Puay , Kotowicz, Mark A. , Langhammer, Arnulf , Lippuner, Kurt , Nordström, Anna , Nordström, Peter , O’Neill, Terence W , Obermayer-Pietsch, Barbara Maria , Orwoll, Eric , Rivadeneira, Fernando , Schott, Anne‐Marie , Sornay‐Rendu, Elisabeth , Szulc, Paweł , Torgerson, David John , Schoor, Natasja M. van , Vila, Joan , Vandenput, Liesbeth , Lorentzon, Mattias , Leslie, William D. , Kanis, John A.

Journal of Bone and Mineral Research | August 12, 2025 | Volume: 40 | Issue: 10 | Pages: 1144-1155

10.1093/jbmr/zjaf091 | PMID 40795319 Get It

Abstract The aim of this international meta-analysis was to quantify the predictive value of BMI for incident fracture and relationship of this risk with age, sex, follow-up time, and BMD. A total of 1 667 922 men and women from 32 countries (63 cohorts), followed for a total of 16.0 million person-years were studied. 293 325 had FN BMD measured (2.2 million person-years follow-up). An extended Poisson model in each cohort was used to investigate relationships between WHO-defined BMI categories (Underweight: <18.5 kg/m2; Normal: 18.5-24.9 kg/m2; Overweight: 25.0-29.9 kg/m2; Obese I: 30.0-34.9 kg/m2; Obese II: ≥35.0 kg/m2) and risk of incident osteoporotic, major osteoporotic and hip fracture (HF). Inverse-variance weighted β-coefficients were used to merge the cohort-specific results. For the subset with BMD available, in models adjusted for age and follow-up time, the hazard ratio (95% CI) for HF comparing underweight with normal weight was 2.35 (2.10-2.60) in women and for men was 2.45 (1.90-3.17). Hip fracture risk was lower in overweight and obese categories compared to normal weight [obese II vs normal: women 0.66 (0.55-0.80); men 0.91 (0.66-1.26)]. Further adjustment for FN BMD T-score attenuated the increased risk associated with underweight [underweight vs normal: women 1.69 (1.47-1.96); men 1.46 (1.00-2.13)]. In these models, the protective effects of overweight and obesity were attenuated, and in both sexes, the direction of association reversed to higher fracture risk in Obese II category [Obese II vs Normal: women 1.24 (0.97-1.58); men 1.70 (1.06-2.75)]. Results were similar for other fracture outcomes. Underweight is a risk factor for fracture in both men and women regardless of adjustment for BMD. However, while overweight/obesity appeared protective in base models, they became risk factors after additional adjustment for FN BMD, particularly in the Obese II category. This effect in the highest BMI categories was of greater magnitude in men than women. These results will inform the second iteration of FRAX®.
Consensus Statements—Optimizing Performance of the Elite Athlete
Bangsbo, Jens , Hostrup, Morten , Hellsten, Ylva , Hansen, Mette Halskov, Egan, Brendan , Hackney, Anthony C. , Chambers, Toby L. , Deshmukh, Atul S. , Elliott‐Sale, Kirsty J. , Joyner, M. J., Christensen, Peter M. , Kissow, Julie , Jeppesen, Jan S. , Moesgaard, Lukas , Egan, Brendan , Hackney, Anthony C , Magnusson, Peter , Calbet, Jose A L , Elliott-Sale, Kirsty , Joyner, Mike, Christensen, Peter M , Joyner, Michael J , Rømer, Tue , Wickham, Kate A , Jessen, Søren K , Jeppesen, Jan S , Moesgaard, Lukas , Hellsten, Ylva , Hansen, Mette, Melin, Anna , Kjær, Michael , Burr, Jamie F. , Engebretsen, Lars , Jones, Andrew M. , Pitsiladis, Yannis , Petersen, Jesper, Calbet, José A. L. , Andersen, Jesper L.

Scandinavian Journal of Medicine & Science in Sports | August 9, 2025 | Volume: 35 | Issue: 8 | Pages: No page available

10.1111/sms.70112 | PMID 40781883 Get It

ABSTRACT The International Consensus Conference “Optimising Performance of the Elite Athlete,” held in November 2024, brought together 29 scientists, some coaches, and athletes to establish evidence‐based consensus statements aimed at enhancing elite athletic performance and health. The conference addressed critical themes including training strategies, nutrition, female athlete considerations, injury management, and emerging technologies. Key conclusions emphasize individualized, sport‐specific approaches to training and nutrition, integrating concurrent training modalities to improve endurance, resilience, and efficiency. Nutrition strategies highlight the importance of tailored energy and macronutrient periodization, recognition of low energy availability risks, and cautious use of dietary supplements. Special attention was directed to female athletes, advocating for improved monitoring of menstrual cycles and hormonal status, while acknowledging current knowledge gaps in hormonal influences on performance and injury risk. Injury prevention remains a challenge, with tendon overuse and Achilles tendon ruptures significantly impacting athlete careers; rehabilitation should rely on criteria‐based progression and multidisciplinary input. Emerging technologies, including wearable sensors and multi‐omics analyses, hold promise for personalized training and nutrition but require further validation in elite contexts. Despite robust consensus, the panel identified substantial research gaps, particularly regarding female athletes, longitudinal training effects, and efficacy of novel interventions. This consensus provides a practical, scientifically grounded framework to optimize elite athlete performance and health, while underscoring the need for continued research to address outstanding questions and promote inclusive evidence‐based practices.
Effects of a Geriatric Emergency Department Multidisciplinary Intervention on Functional Status and Quality of Life: A Pre/Post Cohort Study
Southerland, Lauren T. , Stephens, Julie , Hunold, Katherine M. , Carpenter, Christopher R. , Mion, Lorraine C. , Krupinski, Lucas, Reider, Carson, Caterino, Jeffrey M. , Carpenter, Christopher R , Southerland, Lauren T , Hunold, Katherine M , Krupinski, Lucas

Academic Emergency Medicine | August 7, 2025 | Volume: 33 | Issue: 1 | Pages: No page available

10.1111/acem.70119 | PMID 40770643 Get It

ABSTRACT Background Geriatric screening and multidisciplinary assessment of older adults in the Emergency Department (ED) decrease hospitalizations and ED revisits. The impact on patient‐reported outcomes of health‐related quality of life (HRQoL) and functional status is not known. Methods A hybrid type II implementation/effectiveness prospective cohort study was conducted in an academic ED. The intervention bundle was geriatric screening for delirium, fall risk, and transition of care needs, and multidisciplinary assessment. All older adults (≥ 65 years) placed in the ED observation unit were eligible. HRQoL and functional status were obtained at the ED visit, 30, and 90 days, and were compared between the pre‐ and post‐intervention implementation cohorts. Secondary outcomes included ED revisits, falls, mortality, and intervention adoption measures. Results From 2019 to 2023, 368 adults participated in the study: Most were community‐dwelling (97%) and had multiple comorbidities. The pre ( n = 138) and post ( n = 230) cohorts did not differ in baseline functional status or HRQoL. The rate of geriatric screening improved from 12.3% in the pre‐implementation cohort to 91.3% in the post‐implementation cohort ( p < 0.01). Multispecialty consultation also increased (68.1%–91.3%, p < 0.01). The proportion who had a post‐ED visit decline in functional status did not differ between cohorts. Physical HRQoL declined similarly in both cohorts (−0.73 vs. −0.33, p = 0.61) at 90 days. Mental HRQoL improved in both cohorts; improvement was greater in the pre‐cohort (2.35 vs. 0.32, p = 0.02). ED revisits and re‐hospitalizations were unchanged (30 days: 23.0% vs. 17.2%, p = 0.18, and 90 days: 37.8% vs. 34.8%, p = 0.57). The intervention decreased falls at 30 and 90 days (30 days: 9.7% vs. 3.2%, p = 0.04; 90 days: 22.1% vs. 7.9%, p < 0.01). Conclusions Geriatric screening in the ED increased identification of geriatric syndromes and multidisciplinary consultation. The intervention was associated with decreased falls but did not affect HRQoL or reduce functional decline post ED visit. Trial Registration clinicaltrials.gov : NCT04068311
Long-term effects of 4 years of menopausal hormone therapy on white matter integrity
Faubion, Laura L. , Tosakulwong, Nirobul, Lesnick, Timothy G. , Fought, Angela J. , Kendall‐Thomas, June, Kapoor, Ekta , Fields, Julie A. , Bailey, Kent R. , James, Taryn T. , Løbo, Rogerio A. , Pal, Lubna , Hammers, Dustin B. , Cedars, Marcelle I. , Miller, Virginia M. , Harman, S. Mitchell , Gleason, Carey E. , Kantarci, Kejal , Kantarci, Kejal , Mak, Elijah , Kara, Firat , Tosakulwong, Nirobul, Reid, Robert I. , Schwarz, Christopher G. , Manson, JoAnn E. , Hammers, Dustin B , Brinton, Eliot A. , Malek‐Ahmadi, Michael , Naftolin, Frederick , Santoro, Nanette F. , Dowling, N. Maritza

Menopause | July 22, 2025 | Volume: 32 | Issue: 9 | Pages: 818-828

10.1097/gme.0000000000002562 | PMID 40694740 Get It

Objectives: To assess the long-term effects of 4 years of menopausal hormone therapy (mHT) on the brain’s white matter architecture in women who initiated mHT within 3 years of menopause onset. Methods: The Kronos Early Estrogen Prevention Study (KEEPS) was a multicenter, double-blind, randomized, placebo-controlled 4-year mHT trial with treatment arms of oral conjugated equine estrogens (oCEE), transdermal 17β-estradiol (tE2), and placebo in recently postmenopausal women. KEEPS Continuation was an observational follow-up of KEEPS participants. White matter integrity was evaluated in KEEPS Continuation participants 10 years after KEEPS completion using white matter hyperintensity volume, diffusion magnetic resonance imaging (dMRI) techniques, and cerebral infarcts. Linear regression models were fitted for each brain region to evaluate if there were differences in white matter between KEEPS treatment arms. Results: There was no evidence to suggest the long-term effects of 4 years of mHT on brain white matter in KEEPS Continuation participants [n=266, mean age 67 (58-73)]. No differences in dMRI metrics were found in each of the treatment arms (oCEE n=70; tE2 n=79) when compared to placebo (n=94), following a false discovery rate adjustment for multiple comparisons. There were no statistically significant differences in white matter hyperintensity volume or infarct occurrence when comparing each of the treatment arms to placebo. Conclusions: We found no evidence of the long-term effect of 4-year mHT on white matter integrity when compared to placebo, consistent with emerging evidence of the safety of short-term use of mHT in recently postmenopausal women.
Cosmetic and Surgical Dermatology Learning Needs Identified Through Continuing Certification Program Assessments of the American Board of Dermatology
Stratman, Erik J. , Schaffer, Julie V., Miller, Stanley J., Allen, David M., Bichakjian, Christopher K. , Brewer, Jerry D., Vidimos, Allison T. , Roenigk, Randall K.

Dermatologic Surgery | July 22, 2025 | Volume: 52 | Issue: 2 | Pages: 202-204

10.1097/dss.0000000000004779 | PMID 40693657 Get It

Early Findings from the Multicenter RAPID Consortium on Papillary Craniopharyngiomas
Catalino, Michael P. , Pham, D. T. , Couldwell, William T. , Evans, James J., Callopy, Calen, Pacione, Donato , Suryadevara, Carter M. , Silverstein, Julie , Gardner, Paul A. , Barkhoudarian, Garni , Miranda, Juan Carlos Fernández, Benjamin, Carolina , Kshettry, Varun R. , Zada, Gabriel , Zwagerman, Nathan T. , Cheok, Stephanie , Wu, Kyle C., Little, Andrew S. , Karsy, Michael , Couldwell, William T , Chicoine, Michael , Kshettry, Varun R , Van Gompel, Jamie J , Palit, Sandhya R. , Karsy, Michael , Pham, Duy, Rennert, Robert C , Kim, Won Bae , Kim, Albert , Gompel, Jamie J. Van , Prevedello, Daniel M. , Mamelak, Adam N. , Pacult, Mark A.

Journal of Neurological Surgery Part B: Skull Base | July 18, 2025 | Volume: 87 | Issue: 04 | Pages: 406-413

10.1055/a-2646-2339 | PMID 42404182 Get It

Abstract Craniopharyngiomas are rare parasellar tumors, and papillary craniopharyngiomas (PCPs) represent 8 to 20% of cases. Interim analysis of retrospective data collected from the Registry of Adenomas of the Pituitary and Related Disorders (RAPID). Fourteen U.S.-based academic skull base centers between 2011 and 2023. Patients with PCPs. Demographic, imaging, surgical, and outcome variables. Ninety-nine patients with PCPs were included. The mean age was 51.8 ± 14.7, and 57.6% were male. Most tumors showed mixed cystic/solid components (67.5%), were transinfundibular (50.0%), and were treated with an endoscopic endonasal approach (74.5%), with 51.1% demonstrating gross total resection (GTR). Pituitary stalk was preserved in 51.9%. Permanent arginine vasopressin deficiency was seen in 67.1% and was associated with pituitary stalk sacrifice (p = 0.003). Cerebrospinal fluid leak was the most common nonendocrine postsurgical, 30-day complication (9.1%), reason for return to the operating room (3.1%), and reason for 90-day readmission (8.1%). Most patients (63.9%) received no adjuvant therapy; GTR was associated with decreased radiotherapy use (p = 0.0001). BRAFV600E mutation was detected in 64/69 tumors tested, although only one patient was treated with a BRAF inhibitor. A mean follow-up of 12.3 ± 14.6 months was seen for the group. RAPID consortium enabled the largest real-world clinical information dataset for PCPs. Early findings support that GTR and stalk preservation are important to outcomes. Iterative analysis and discussion of data led to the generation of a framework for future studies to fully leverage the capabilities of multicenter registries.
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Johnson, Renée , Fletcher, Robert A. , Peters, Stacey , Ohanian, Monique , Soka, Magdalena , Smolnikov, Andrei , Abihider, Katherine E, Ackerman, Michael J. , Ader, Flavie , Akhtar, Mohammed , Ashley, Euan A. , Austin, Rachel , Baas, Annette F., Blouin, Jean‐Louis , Brown, Emily E. , Cannie, Douglas , Correnti, Gemma, Ferro, Matteo Dal , Dellefave‐Castillo, Lisa , Dooijes, Dennis , Dybro, Anne M. , Demri, Youssef Ed, Hachmi, Mohamed El , Escobar-López, Luis , Foye, Sarah , Gigli, Marta , López, Esther González , Goudal, Adeline , Graw, Sharon , Guipponi, Michel, Haan, Eric , Haas, Jan , Hammersley, Daniel , Hansen, Frederikke , Hey, Thomas Morris , Houweling, Arjan C. , Ingrey, A., Jabbour, Andrew , Jansweijer, Joeri A. , Jongbloed, Jan D.H. , Keogh, Anne , Deprez, Ronald H. Lekanne , Macciocca, Ivan , Mansencal, Nicolas , Mansour, Julia, Martinez‐Veira, Cristina, Medo, Kristen , Merlo, Marco , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Murphy, Anne M. , Murray, Brittney , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L. , Picard, Kermshlise, Prasad, Sanjay , Proukhnitzky, Julie , Pruny, Jean-François, Réant, Patricia , Ronan, Anne , Semsarian, Christopher , Storm, Garrett , Thomson, Kate , Thompson, Tina , Wallis, Mathew , Flagship, Australian Genomics Cardiac, Adès, Lesley C., Alankarage, Dimithu, almog, Morgan, Al-Shinnag, Mohammad , Barnett, Chris , Bodek, Simon , Boggs, Kirsten, Bray, Alessandra , Brown, Jaye, Burns, Charlotte , Cao, Michelle, Carr, Will, Casauria, Sarah , Chalinor, Heather V., Chang, Yu‐Chen , Charitou, Theodosia , Collins, Felicity, Correnti, Gemma, Cox, Kathy, Das, Debjani , Fazio, Paul De, Elzen, Nicola Den, Devery, Sophie , Dobbins, Julia , Elbracht-Leong, Stefanie, Enríquez, A. Juanico, Fatkin, Diane , Fear, Vanessa S. , Fine, Miriam, Garza, Denisse , Gongolidis, Laura, Gray, Belinda , Greer, Cassie, Haan, Eric, Haas, Mathilda, Hanna, Bernadette , Hayward, Janette, Herrera, Carmen, Hill, Adam P. , Hollingsworth, Georgie, Hollway, Georgina E. , Horton, Ari , Ingles, Jodie, Isbister, Joanne , Jane-Pantaleo, Sarah, Kelly, Andrew , King‐Smith, Sarah L., Lassman, Timo, Lipton, Jonathon, MacIntyre, Paul, Madelli, Evanthia O. , Martin, Ellenore , Medi, C., Metke, Alejandro, Morrish, A., Morwood, Jim, Mowat, David , Ng, Chai‐Ann , Nowak, Natalie , Martinez, Noelia Nunez, O'Sullivan, S. S. , Overkov, Angela, Perrin, Mark J. , Perry, Matthew , Pflaumer, Andreas , Phillips, Peta, Phuong, Thuan, Pope-Couston, Rachel, Poplawski, Nicola K., Punni, Preeti, Rajagopalan, Sulekha , Regan, Matthew, Rogers, Jonathan, Ryan, Mark , Sandaradura, Sarah A. , Schönrock, Nicole, Scuffham, Paul , Sherburn, Isabella, Sherlock, Mary-Clare, Smerdon, Carla, Smith, Janine , Smyth, Renee, Sy, Raymond W. , Tang, Dotti, Taylor, Shelby , Tchan, Michel , Trainer, Alison, Trivedi, Gunjan, Spaendonck‐Zwarts, Karin van , Vandenberg, Jamie I. , Verma, Kunal , Vidgen, Miranda E. , Vohra, Jitendra K. , Waddel-Smith, Kathryn, Weintraub, Robert G, Worgan, Lisa , Wornham, Linda, Wu, Kathy H. C. , Yeates, Laura , Zentner, Dominica, Arnott, Clare , Fokstuen, Siv , Meder, Benjamin , Giudicessi, John R. , Parikh, Victoria N. , Ware, James S. , Rooryck, Caroline , Lakdawala, Neal K. , Elliott, Perry , Charron, Philippe , Peña‐Peña, María Luisa, Mogensen, Jens , Rasmussen, Torsten B. , Seidman, Jonathan G. , Seidman, Christine E. , Riele, Anneline S.J.M. te , Pinto, Yigal M. , Christiaans, Imke , Fatkin, Diane, Gray, Belinda , Akhtar, Mohammed M , Amin, Ahmad S , Ashley, Euan A , Atherton, John J , Austin, Rachel , Baas, Annette F , Bagnall, Richard D , Ross, Samantha Barratt , Blouin, Jean-Louis , Brown, Emily E , Bundgaard, Henning , Cannie, Douglas , Chmielewski, Przemyslaw , Crespo-Leiro, Maria Generosa , Dal Ferro, Matteo , Dellefave-Castillo, Lisa M , Dominguez, Fernando , Dybro, Anne M , Ed Demri, Youssef , El Hachmi, Mohamed , Escobar-Lopez, Luis , Foye, Sarah Jajesnica , Franaszczyk, Maria , Gigli, Marta , Goudal, Adeline , Graw, Sharon , Guipponi, Michel , Haan, Eric , Hammersley, Daniel J , Hansen, Frederikke G , Hayward, Chris , Hey, Thomas Morris , Ho, Carolyn Y , Houweling, Arjan C , Jabbour, Andrew , Jansweijer, Joeri A , Jongbloed, Jan D H , Keogh, Anne M , Larrañaga-Moreira, Jose M , Lekanne Deprez, Ronald H , Macciocca, Ivan , Macdonald, Peter S , McDonough, Barbara , McGaughran, Julie , Medo, Kristen , Michalak, Ewa , Monserrat, Lorenzo , Mountain, Helen , Muller, Steven A , Murphy, Anne M , Oates, Emily C , Ormondroyd, Elizabeth , Pachter, Nicholas , Palmyre, Aurélien , Pereira, Naveen L , Proukhnitzky, Julie , Reant, Patricia , Richard, Pascale , Ronan, Anne , Sedaghat-Hamedani, Farbod , Semsarian, Christopher , Storm, Garrett , Stroeks, Sophie , Taylor, Matthew R G , Thomson, Kate , Thompson, Tina , van Tintelen, J Peter , Vissing, Christoffer Rasmus , Waddell-Smith, Kathryn E , Wallis, Mathew , Marian, Ali J , Fokstuen, Siv , Giudicessi, J R , Parikh, Victoria N , Piriou, Nicolas , Rooryck, Caroline , Lakdawala, Neal K , Mestroni, Luisa , van Spaendonck-Zwarts, Karin Y , Garcia-Pavia, Pablo , Peña-Peña, Maria Luisa , Christensen, Alex Hoerby , Bilińska, Zofia T , Rasmussen, Torsten B , Seidman, Jonathan G , Seidman, Christine E , Te Riele, Anneline S J M , Ware, James S , Gray, Belinda , Vandenberg, Jamie I , Fletcher, Robert A , Amin, Ahmad S. , Bundgaard, Henning , Crespo‐Leiro, María G. , Domínguez, Fernándo , Heymans, Stéphane , Ho, Carolyn Y. , Ingles, Jodie , James, Paul A. , McGaughran, Julie , Paldino, Alessia , Poplawski, Nicola Kazia , Prasad, Sanjay K , Syrris, Petros , Taylor, Matthew R.G. , Tintelen, J. Peter van , Zentner, Dominica , Flagship, Australian Genomics Cardiac, Barnett, Chris, Blue, Gillian M. , Bogwitz, Michael R. , Boughtwood, Tiffany F. , Brion, Marie‐Jo , Bryson‐Richardson, Robert J. , Burnett, Leslie , Chapman, Gavin , Chong, Belinda , Correnti, Gemma, Cox, Kathy, Cunningham, Fiona, Davis, Jason A. , Davis, Andrew M. , Silva, M. De , Dunwoodie, Sally L. , Dwyer, Nathan , Elliott, David A. , Enriquez, Annabel, Finlay, Keri , Giannoulatou, Eleni , Greer, Cassie, Harvey, Richard Paul , Herrera, Carmen, Hill, Adam, Howting, Denise A. , Jackson, Matilda R. , Johnson, Renee, Kirk, Edwin Philip , Kummerfeld, Sarah , Lunke, Sebastian , MacIntyre, Paul, Mallawaarachchi, Amali C. , Mathew, Jacob , Mattiske, Tessa , McLean, Alison K. , McNamara, James W. , Milnes, Di , Milward, Michael, O'Sullivan, Sinead, Patel, Chirag , Quinn, Michael C. , Raju, Hariharan , Rath, Emma M. , Regan, Matthew, Ryan, Mark, Singer, Emma S. , Stark, Zornitza , Taylor, Jessica, Thorpe, Jordan , Trivedi, Gunjan , Valente, Giulia , Wilson, Meredith , Winlaw, David Scott , Zentner, Dominica, Oh, Jae Won , James, Cynthia A. , Villa, Roberto Barriales , Wahbi, Karim , Mestroni, Luisa , Sinagra, Gianfranco , Watkins, Hugh , McNally, Elizabeth M. , Charron, Philippe , Verdonschot, Job A.J.

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

10.1093/eurheartj/ehaf380 | PMID 40796136 Get It

Abstract Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. Methods An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. Results A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80–30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06–5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27–3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (&lt;30 years) disease (OR, 4.75; 95% CI, 2.35–9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08–.23). Conclusions Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.
ASHP Guidelines on the Evaluation of Off-Label Medication Use in the Inpatient Setting
Durant, Karin M , Gwin, Julie, Leber, Molly Billstein , Mathew, Nisha, Matonti, Lisa, Segovia, Margaret F, Williams, Cicely, Segovia, Margaret F

American Journal of Health-System Pharmacy | July 17, 2025 | Volume: 82 | Issue: 23 | Pages: e1013-e1019

10.1093/ajhp/zxaf166 | PMID 40674242 Get It