Results 1 to 10 of about 922 (84)

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

Orphanet Journal of Rare Diseases, 2021
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 ...
Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields   +6 more
doaj   +2 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 Journal of Rare Diseases
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.
Chad Gwaltney, Alan Shields, Emily Love, Sarah Ollis, Jonathan Stokes, Iyar Mazar, Ethan Arenson, Anthony Aiudi, R. J. Wirth, Carrie Houts   +9 more
doaj   +2 more sources

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals. [PDF]

J Inherit Metab Dis
ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Fu K, Huang Y, Bowen V, McCurdy K, Tan RB, Phoon CKL, Marjoram L, Dahlen A.   +7 more
europepmc   +2 more sources

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 more
doaj   +2 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

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases. [PDF]

Clin Transl Sci
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Stern S, Crisamore K, Patton J, Schuck R, Pacanowski M.   +4 more
europepmc   +2 more sources

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases. [PDF]

Adv Sci (Weinh)
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Singh P, Tahavvori A, Kuschner CE, Espin BB, Kazmi J, Ramos SV, Yin T, Hayashida K, Ito-Hagiwara K, Endo Y, Yoshioka K, Hagiwara J, Sohi A, Oropallo A, Haddad G, Li T, Becker LB, Kim J.   +17 more
europepmc   +2 more sources

Genotype-Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations. [PDF]

Health Sci Rep
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Nazir A, Sarwar AH, Nazar R, Shahab SH, Manan S, Rafique H, Khan AT, Shubietah A, Zaidi SRH, Khan B.   +9 more
europepmc   +2 more sources

Development and Validation of the Brief Inventory of Treatment Expectations in Chronic Pain (BITEC). [PDF]

Eur J Pain
ABSTRACT Background Expectations shape therapeutic outcomes, yet their systematic assessment remains limited in clinical and research settings. To address this gap, we developed and validated the Brief Instrument for the Assessment of Treatment Expectations in Chronic Pain (BITEC) using Item Response Theory. Methods The study comprised four phases. (I)
Caumo W, França BR, Ehlers J, de Jezus Castro SM, Borges RB, Hirakata VN, Bueno GB, da Torres IL, Fregni F.   +8 more
europepmc   +2 more sources

Quality of life in Barth syndrome

Therapeutic Advances in Rare Disease, 2022
Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population.
Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil, Brittany Hornby   +4 more
doaj   +1 more source