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Total 224 results found since Jan 2013.

Prevalence and clinical outcomes of dystrophin ‐associated dilated cardiomyopathy without severe skeletal myopathy
ConclusionsDMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
Source: European Journal of Heart Failure - June 9, 2021 Category: Cardiology Authors: Maria A. Restrepo ‐Cordoba, Karim Wahbi, Anca R. Florian, Juan Jiménez‐Jáimez, Luisa Politano, Michael Arad, Vicente Climent‐Paya, Ana Garcia‐Alvarez, Rasmus B. Hansen, José M. Larrañaga‐Moreira, Milos Kubanek, Luis R. Lopes, And Tags: Research Article Source Type: research

Clinical Characteristics of Myositis Associated with Graft-Versus-Host Disease
AbstractPurpose of ReviewRecipients of allogeneic hematopoietic stem cell transplantation (HSCT) are at increased risk for inflammatory myositis; histological subsets reported include dermatomyositis, necrotising myopathy and chronic graft-versus-host disease (cGVHD) –related myositis. Though corticosteroids and various immunosuppressive therapies have been used, there is a lack of consensus guidelines dictating therapy.Recent FindingsRecent evidence suggests the fascia as a preferential target in cGVHD myositis, with conditioning regimens promoting fascial microtrauma. Positron emission tomography (PET) can be a useful ...
Source: Current Rheumatology Reports - April 24, 2021 Category: Rheumatology Source Type: research

Immediate Post-Discharge Comprehensive Rehabilitation Program Expedites Heart Transplant Recovery and Reduces Readmission
Recovery of strength and endurance post heart transplant (HTx) has remained relatively slow. Factors that limit early rehabilitation include sternotomy precautions and corticosteroid myopathy. We propose that specialized, comprehensive rehabilitation program (COLTT) can be initiated immediately after discharge to (1) improve functional outcomes (2) decrease hospital readmission.
Source: The Journal of Heart and Lung Transplantation - March 20, 2021 Category: Transplant Surgery Authors: J. Chapa, C. DiPerna, P. Lueck, L. Tucker, C. Hage, M. Guglin, M. Jones, K. Ballut, R. Rao Tags: (627) Source Type: research

Cardiac Transplantation in Danon Disease
Danon disease is a rare X-linked dominant cardioskeletal myopathy caused by mutations in the lysosome-associated membrane protein-2 (LAMP-2) gene. Currently, there are no disease modifying therapies for Danon disease. The purpose of this study is to characterize individuals with Danon disease who undergo cardiac transplantation and describe their outcomes.
Source: The Journal of Heart and Lung Transplantation - March 20, 2021 Category: Transplant Surgery Authors: K.N. Hong, C. Battikha, A. Lin, S. John, M. Brambatti, A. Garcia-Alvarez, L. Garcia-Guereta, C. Diez, L. Perez-Gomez, P. Garcia-Pavia, M. Taylor, E. Adler Tags: (666) Source Type: research

Severe Myopathy Following Heart Transplantation in a Patient with Danon Disease
A patient with Danon disease develops a severe myopathy with rhabdomyolysis following heart transplantation (HT).
Source: The Journal of Heart and Lung Transplantation - March 20, 2021 Category: Transplant Surgery Authors: J. Guzman Bofarull, L. Castrillo, J. Milisenda, A. Garc ía Álvarez, M. Castel, E. Sandoval, T. López Sobrino, M. Farrero, F. Pérez-Villa Tags: (1236) Source Type: research

An Exploratory Study on Physical Function in Stem Cell Transplant Patients Undergoing Corticosteroid Treatment for Acute Graft-Versus-Host-Disease
In conclusion, stem cell transplant patients receiving high-dose corticosteroids for acute graft-versus-host disease are at risk for weakness detected as early as day 14. Increasing adherence to exercise may mitigate these changes.
Source: American Journal of Physical Medicine and Rehabilitation - March 20, 2021 Category: Rehabilitation Tags: Brief Report Source Type: research

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types
This report emphasizes that genetic disease should still be considered in the context of presumably acquired disease, and also demonstrates the extent of transdifferentiation of donor cells into other tissues.
Source: Frontiers in Neurology - January 11, 2021 Category: Neurology Source Type: research

Myositis-specific antibodies identify a distinct interstitial pneumonia with autoimmune features phenotype
Interstitial pneumonia with autoimmune features (IPAF) characterises individuals with interstitial lung disease (ILD) and features of connective tissue disease (CTD) who fail to satisfy CTD criteria. Inclusion of myositis-specific antibodies (MSAs) in the IPAF criteria has generated controversy, as these patients also meet proposed criteria for an antisynthetase syndrome. Whether MSAs and myositis-associated antibodies (MAA) identify phenotypically distinct IPAF subgroups remains unclear. A multicentre, retrospective investigation was conducted to assess clinical features and outcomes in patients meeting IPAF criteria stra...
Source: European Respiratory Journal - December 3, 2020 Category: Respiratory Medicine Authors: Graham, J., Bauer Ventura, I., Newton, C. A., Lee, C., Boctor, N., Vu Pugashetti, J., Cutting, C., Joerns, E., Sandhu, H., Chung, J. H., Garcia, C. K., Kadoch, M., Noth, I., Adegunsoye, A., Strek, M. E., Oldham, J. M. Tags: Interstitial and orphan lung disease Original Articles: Interstitial lung disease Source Type: research

072 Altered LA Strain in Bone Marrow Transplant (BMT) Patients Previously Treated With Anthracyclines: A Marker of an Atrial Myopathy
Strain analysis by echocardiography can help identify patients with subclinical left atrial (LA) impairment, which may help predict future cardiac dysfunction and arrhythmias.
Source: Heart, Lung and Circulation - November 8, 2020 Category: Cardiology Authors: P. Emerson, S. Mahendran, T. Deshmukh, L. Stefani, S. Trivedi, M. Hogg, P. Brown, M. Altman, S. Panicker, D. Gottlieb, L. Thomas Source Type: research

Non-invasive ventilation post lung transplantation in a home setting
Conclusion: NIV seems to be a valuable treatment option, specially for CLAD, with favorable tolerability and security profiles.
Source: European Respiratory Journal - October 28, 2020 Category: Respiratory Medicine Authors: Magalhaes, A. R., Moreira, I., Caldeira, V., Sa, T., Borba, A., Calvinho, P., Semedo, L., Cardoso, J., Fragata, J. Tags: Rehabilitation and chronic care Source Type: research

Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Conclusions: We demonstrate that R406W-desmin provokes its severe cardiotoxic potential by a novel pathomechanism, where the concurrent dual functional states of mutant desmin assembly complexes underlie the uncoupling of desmin filaments from intercalated discs and their structural disorganization. PMID: 33023321 [PubMed - as supplied by publisher]
Source: Circulation - October 7, 2020 Category: Cardiology Authors: Herrmann H, Cabet E, Chevalier NR, Moosmann J, Schultheis D, Haas J, Schowalter M, Berwanger C, Weyerer V, Agaimy A, Meder B, Müller OJ, Katus HA, Schlötzer-Schrehardt U, Vicart P, Ferreiro A, Dittrich S, Clemen CS, Lilienbaum A, Schröder R Tags: Circulation Source Type: research

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
ABSTRACTThe metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, ...
Source: Journal of Nutrition - October 1, 2020 Category: Nutrition Source Type: research

When The “Genes” No Longer Fit: An Unusual Presentation of LMNA-related Cardiomyopathy
We present a case of high-grade AV block and septal ventricular tachycardia (VT) requiring orthotopic heart transplantation with post-transplant genetic testing showing LMNA-related dilated cardiomyopathy.
Source: Journal of Cardiac Failure - September 30, 2020 Category: Cardiology Authors: Justin Arunthamakun, Timothy Gong, Joshua Rutland, Matthew Wainwright, Dan Meyer, William C. Roberts, Praveen Rao, Amit Alam, Shelley Hall Tags: 298 Source Type: research

Single-Cell RNA Sequencing to Dissect the Immunological Network of Autoimmune Myocarditis.
Conclusions: We herein present a comprehensive single-cell landscape of the cardiac immune cells in different EAM phases. In addition, we elucidated the contribution of Hif1a to the inflammatory response through the regulation of immune cell activity, particularly of macrophage cluster 2 and Th17 cells. Moreover, a Hif1a inhibitor alleviated inflammatory cell infiltration of the EAM model and may serve as a potential therapeutic target in the clinic. PMID: 32431172 [PubMed - as supplied by publisher]
Source: Circulation - May 19, 2020 Category: Cardiology Authors: Hua X, Hu G, Hu Q, Chang Y, Hu Y, Gao L, Chen X, Yang PC, Zhang Y, Li M, Song J Tags: Circulation Source Type: research

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden...
Source: Orphanet Journal of Rare Diseases - April 10, 2020 Category: Internal Medicine Authors: Sarah C. Gr ünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller and Ute Spiekerkoetter Tags: Research Source Type: research