Results 1 to 10 of about 809 (138)

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. [PDF]

JIMD Rep
Barth syndrome (BTHS) is a rare X‐linked recessive disorder characterized by mutations in the TAFAZZIN gene, leading to mitochondrial dysfunction, cardioskeletal myopathy, neutropenia, exercise intolerance, and growth delay. While cardiac transplantation
Cade WT, Bohnert KL, Peterson LR, Fuentes LL, Poehlein E, Green CL, Pacak CA, Byrne BJ, Reeds DN, Bashir A, Feingold B, Taylor C.   +11 more
europepmc   +3 more sources

Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study. [PDF]

Orphanet J Rare Dis
Abstract Background Barth syndrome (BTHS) is a rare, X-linked disorder that stems from mutations in the TAFAZZIN (TAZ) gene with varying disease severity among patients. The Barth Syndrome Symptom Assessment (BTHS-SA) is a patient-reported outcome questionnaire developed to assess BTHS symptom severity.
Gwaltney C, Shields A, Love E, Ollis S, Stokes J, Mazar I, Arenson E, Aiudi A, Wirth RJ, Houts C.   +9 more
europepmc   +4 more sources

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module. [PDF]

Occup Ther Int, 2023
Objective. This study examined the preliminary reliability and validity of the PedsQL™ Family Impact Module (PedsQL FIM) in families of children with Barth syndrome (BTHS). Method. A total of 72 parents with children or youth between the ages of 5 and 19
Lim Y, Hong I, Han A.
europepmc   +3 more sources

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults [PDF]

Orphanet Journal of Rare Diseases, 2021
Abstract Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently available, making it difficult to evaluate treatment effects in ...
Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields   +6 more
openaire   +3 more sources

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome [PDF]

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +3 more sources

Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome [PDF]

Journal of Inflammation, 2012
Background Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal ...
Wilson Lori D, Al-Majid Sadeeka, Rakovski Cyril S, MD Christina D   +3 more
doaj   +4 more sources

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells. [PDF]

FASEB J
Deficiency of the cardiolipin remodeling enzyme TAFAZZIN causes Barth syndrome (BTHS), resulting in cardiolipin loss, monolysocardiolipin (MLCL) accumulation, and electron transport chain (ETC) abnormalities in B‐lymphoblastoid cells. Effects of the non‐psychotropic phytocannabinoid cannabidiol (CBD) were examined on B‐lymphoblastoid cells from ...
Chan JZ, Berdeklis AN, Liu MR, Rahman FA, Tomczewski MV, Graham MQ, Musa M, Cocco AD, Stark KD, Quadrilatero J, Duncan RE.   +10 more
europepmc   +2 more sources

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome [PDF]

Molecular Genetics and Metabolism Reports, 2020
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds   +8 more
doaj   +3 more sources

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome[S] [PDF]

Journal of Lipid Research, 2015
Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of card­iolipin (CL) species in mitochondria.
Roberto Angelini, Simona Lobasso, Ruggiero Gorgoglione, Ann Bowron, Colin G. Steward, Angela Corcelli   +5 more
doaj   +3 more sources

Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study

JIMD Reports, 2021
Background Muscle weakness and exercise intolerance contribute to reduced quality of life (QOL) in Barth syndrome (BTHS). Our group previously found that 12 weeks of resistance exercise training (RET) improved muscle strength, however, did not increase ...
Kathryn L. Bohnert, Grace Ditzenberger, Adam J. Bittel, Lisa de lasFuentes, Manuela Corti, Christina A. Pacak, Carolyn Taylor, Barry J. Byrne, Dominic N. Reeds, W. Todd Cade   +9 more
doaj   +2 more sources