Results 61 to 70 of about 570,477 (309)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Idiopathic restrictive cardiomyopathy - perspectives from genetics studies. Is it time to redefine these disorders?

Cardiogenetics, 2012
Idiopathic restrictive cardiomyopathy (IRC) is a rare form of heart muscle disease. Genetic studies have revealed that in about half the cases, IRC forms part of the hereditary sarcomeric contractile protein disease spectrum.
Ajay Bahl, Uma Nahar Saikia, Madhu Khullar   +2 more
doaj   +1 more source

Hot hearts on bone scintigraphy are not all amyloidosis: hydroxychloroquine-induced restrictive cardiomyopathy

European Heart Journal, 2020
Michael E. Layoun *, Julianna Desmarais, Stephen B. Heitner , and Ahmad Masri 1,3 The Knight Cardiovascular Institute, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA; Division of Rheumatology, Department of ...
M. Layoun, J. Desmarais, S. Heitner, Ahmad Masri   +3 more
semanticscholar   +1 more source

Association of Elevated Platelets and C‐Reactive Protein With Severe Disease and Poor Survival in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Elevated C‐reactive protein (CRP) levels in systemic sclerosis (SSc) have been linked with severe disease and worse survival, but the role of platelet levels remains unclear. This study examined whether elevated platelet levels, CRP levels, or both are associated with disease severity, progression, and survival in SSc.
Brian S. Lee, Shufeng Li, Srijana Davuluri, Jennifer Lee, Lorinda Chung   +4 more
wiley   +1 more source

Successful management of diastolic heart failure in a patient with restrictive cardiomyopathy following an anterior communicating artery aneurysm clipping

Journal of Neuroanaesthesiology and Critical Care, 2017
Perioperative management of neurosurgical patients with an underlying myocardial dysfunction poses a unique challenge to the neuroanaesthesiologist and the neurointensivist.
Rajasekar Arumugam, Georgene Singh, Krishnaprabhu Raju, Ramamani Mariappan   +3 more
doaj   +3 more sources

Different Phenotypes of Sarcomeric MyBPC3-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis)

Genes, 2022
The same variants in sarcomeric genes can lead to different cardiomyopathies within the same family. This gave rise to the concept of a continuum of sarcomeric cardiomyopathies.
O. Blagova, E. Pavlenko, V. Sedov, E. Kogan, M. Polyak, E. Zaklyazminskaya, Y. Lutokhina   +6 more
semanticscholar   +1 more source

Patient‐Derived 3D Heart‐On‐a‐Chip Model of Dilated Cardiomyopathy With Embedded Bead‐Based Mapping of Tissue Contractility

Advanced Healthcare Materials, EarlyView.
A heart‐on‐a‐chip model of dilated cardiomyopathy is developed from patient‐derived induced pluripotent stem cells. The model recapitulates key disease phenotypes and enables functional assessment through integrated bead‐based tracking and pillar deflection measurements.
Ali Mousavi, Ludovic Mouttet, Shihao Cui, Yasaman Hekmatnia, Mehran Mottahedi, Ida Derish, Naimeh Rafatian, Mark Aurousseau, Gregor Andelfinger, Renzo Cecere, Houman Savoji   +10 more
wiley   +1 more source

Dilated cardiomyopathy in childhood [PDF]

, 2000
Dilated Cardiomyopathy is an uncommon disease in children but morbidity and mortality in affected patients are high. This review discuses clinical presentation, diagnosis, medical management and prognosis of the condition, with an emphasis on recent ...
Franklin, O.M.
core  

Intelligent Micro/Nanorobots for Targeted Interventional Therapy: From Bench to Clinic

Advanced Robotics Research, EarlyView.
Zirui Zhang et al. reviewed the application and challenges of mobile nanomachines in interventional therapy. By converting exogenous energy, including chemical, magnetic, optical, and ultrasonic sources, into mechanical forces, micro/nanorobots (MNRs) enable precise actuation at unprecedented scales. Evolving far beyond traditional drug delivery, these
Zirui Zhang, Yu Dong, Yongsheng Du, Rui Gao, Lin Zhang, Fei Tong   +5 more
wiley   +1 more source

Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy

Cardiogenetics, 2022
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC.
Francesca Girolami, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto, Silvia Favilli   +6 more
doaj   +1 more source