Results 41 to 50 of about 98,806 (295)

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

Arthritis &Rheumatology, EarlyView.
Castleman disease (CD) is a major diagnostic challenge for rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region, whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y. C. Chen, Lu Zhang, David C. Fajgenbaum   +2 more
wiley   +1 more source

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Prognostic mortality factors in advanced light chain cardiac amyloidosis: A prospective cohort study

ESC Heart Failure
Aims Predicting mortality in severe AL cardiac amyloidosis is challenging due to elevated biomarker levels and limited thresholds for stratifying severe cardiac damage.
Amira Zaroui, Mounira Kharoubi, Romain Gounot, Silvia Oghina, Charlotte Degoutte, Melanie Bezard, Arnault Galat, Soulef Guendouz, Louise Roulin, Vincent Audard, Vincent Leroy, Emmanuel Teiger, Elsa Poullot, Valérie Molinier‐Frenkel, Fabien Le Bras, Karim Belhadj, Jean‐Philippe Bastard, Soraya Fellahi, Jason Shourick, Francois Lemonier, Thibaud Damy   +20 more
doaj   +1 more source

The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis

The Journal of Pathology: Clinical Research, 2019
The tissue diagnosis of amyloidosis and confirmation of fibril protein type, which are crucial for clinical management, have traditionally relied on Congo red (CR) staining followed by immunohistochemistry (IHC) using fibril protein specific antibodies ...
Tamer Rezk, Janet A Gilbertson, P Patrizia Mangione, Dorota Rowczenio, Nigel B Rendell, Diana Canetti, Helen J Lachmann, Ashutosh D Wechalekar, Paul Bass, Philip N Hawkins, Vittorio Bellotti, Graham W Taylor, Julian D Gillmore   +12 more
doaj   +1 more source

Intracellular Catalytic Photooxygenation of α‐Synuclein Amyloid

ChemistryEurope, EarlyView.
Amyloid‐selective catalytic photooxygenation reduces amyloid toxicity, aggregation tendencies, and seeding activities. Achieving therapeutic catalysis for intracellular amyloids is challenging due to conflicting oxygenation and reductive cellular environments.
Atsushi Iwai, Youhi Hwang, Hiroki Umeda, Taka Sawazaki, Ikumi Tomizawa, Maiko Ono, Makoto Higuchi, Youhei Sohma, Yukiko Hori, Taisuke Tomita, Harunobu Mitsunuma, Motomu Kanai   +11 more
wiley   +1 more source

Progression and prognostic significance of electrocardiographic findings in patients with cardiac amyloidosis

ESC Heart Failure, Volume 12, Issue 2, Page 809-818, April 2025.
Abstract Aims This study aimed to evaluate the change of the main electrocardiographic (ECG) characteristics and their prognostic role across the main subtypes of cardiac amyloidosis [light‐chain amyloidosis (AL) and hereditary (ATTRv) and wild‐type transthyretin amyloidosis (ATTRwt)].
Alessia Argirò, Mattia Zampieri, Carlotta Mazzoni, Carlo Fumagalli, Michela Baccini, Alessandra Mattei, Alberto Cipriani, Laura De Michieli, Aldostefano Porcari, Gianfranco Sinagra, Marco Merlo, Giacomo Tini, Beatrice Musumeci, Domitilla Russo, Pier Filippo Vianello, Marco Canepa, Roberto Licordari, Gianluca di Bella, Claudio Rapezzi, Federico Perfetto, Francesco Cappelli   +20 more
wiley   +1 more source

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Cardiac amyloidosis (CA) is frequently found in older patients with aortic stenosis (AS). However, the prevalence of AS among patients with CA is unknown.
Mohamed‐Salah Annabi, Rasmus Carter‐Storch, Amira Zaroui, Arnault Galat, Silvia Oghina, Mounira Kharoubi, Mélanie Bezard, Geneviève Derumeaux, Pascale Fanen, François Lemonnier, Elsa Poullot, Emmanuel Itti, Romain Gallet, Emmanuel Teiger, Philippe Pibarot, Thibaud Damy, Marie‐Annick Clavel   +16 more
doaj   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source