Results 211 to 220 of about 27,486 (234)

Human Variant in the Cardiac Troponin I Switch Domain Causes Diastolic Dysfunction in a Novel Mouse Model

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Elizabeth Silver, Jason M. Duran, Betul Beyza Gunes, Axel J. Fenwick, Sofie Maisel, Tsui‐Min Wang, Ana Maria Manso, Marina Sampaio Cruz, Yusu Gu, Joshua Fong, Aysen Shathaya, Chao Chen, Angel Soto‐Hermida, Wei Feng, Yoshitake Cho, Julius Bogomolovas, Jill M. Gelow, Ahmad Masri, Kelly A. Frazer, Robert S. Ross, Ju Chen, Catherine A. Makarewich, Anthony Cammarato, Andrew D. McCulloch, Paul Bushway, Eric D. Adler   +25 more
doaj   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 287-294, February 2026.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Long-term hydroxychloroquine use resulting in cardiomyopathy and conduction abnormalities: a case report. [PDF]

Eur Heart J Case Rep
Ryan T, Luttrell L, Shah A, Lam K, Dias P, Jasim A, Laycock A, Patel V.   +7 more
europepmc   +1 more source

Brentuximab Vedotin With Adriamycin, Vinblastine, and Dacarbazine for Patients Aged 18–59 Years With Untreated Advanced Stage Classical Hodgkin Lymphoma: The Largest Real‐Life Series From Southern Italy Cancer Centers

European Journal of Haematology, Volume 116, Issue 2, Page 174-184, February 2026.
ABSTRACT BV + AVD is increasingly used for frontline treatment of stage III/IV cHL. Young adults and adults (Ya&A) were the most common patients treated with BV + AVD in clinical trials but have not been studied in non‐trial settings. We conducted a real‐life study in secondary and tertiary cancer centers to evaluate the PFS in 18–59 years aged ...
Marco Picardi, Annamaria Vincenzi, Claudia Giordano, Novella Pugliese, Alessia Scarpa, Assunta Lombardi, Elena Vigliar, Giancarlo Troncone, Rosaria Cappiello, Massimo Mascolo, Giovanni Esposito, Maria Prastaro, Ciro Santoro, Roberta Esposito, Carlo Gabriele Tocchetti, Ciro Mainolfi, Rosa Fonti, Silvana Del Vecchio, Fabio Trastulli, Mario Annunziata, Rossella Iula, Catello Califano, Marianna Carchia, Marcello Persico, Alessia Salemme, Emanuele Nicolai, Andrea Soricelli, Marco Salvatore, Fabrizio Pane   +28 more
wiley   +1 more source

Left Ventricular Assist Device Use as a Bridge to Heart Transplantation in Restrictive Cardiomyopathy: A Series of 2 Cases. [PDF]

J Chest Surg
Karslıoğlu AO, Balla E, Sezgin A.
europepmc   +1 more source

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

European Journal of Neurology, Volume 33, Issue 2, February 2026.
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Victor Alm, Linda Säll, Kristin Samuelsson, Rayomand Press, Snjolaug Arnardottir, Anna Lindstrand, Valter Niemelä, Lilia Terinte, Frida Nordin, Per Svenningsson, Daniel Nilsson, Luca Verrecchia, Martin Paucar   +12 more
wiley   +1 more source

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report. [PDF]

BMC Cardiovasc Disord
Han Y, Wang H, Zhang H, Wang M, Gan L, Meng F.   +5 more
europepmc   +1 more source

Interdisciplinary Approach in Pediatric Patients With Recessive Dystrophic Epidermolysis Bullosa: Experience From the Dermatology Service and the Palliative Care and Complex Chronic Patient Team at Sant Joan de Déu Hospital (Barcelona, Spain)

Journal of Evaluation in Clinical Practice, Volume 32, Issue 1, February 2026.
ABSTRACT Background and Aims Epidermolysis bullosa is a rare genetic disorder causing extreme mucocutaneous fragility, requiring specialized, multidisciplinary care. Integrating palliative care into Epidermolysis bullosa management has proven beneficial in symptom control and psychosocial support.
Juan Manuel Martínez‐Ripoll, Marta García‐Domingo, Yolanda M. De la Fuente Robles   +2 more
wiley   +1 more source

Study on nutritional status and incidence of sarcopenia in elderly patients with chronic heart failure. [PDF]

Asia Pac J Clin Nutr
Song S, Du H, Lu X, Luo B, Li Z.
europepmc   +1 more source