Results 11 to 20 of about 5,729,752 (125)

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   +6 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   +5 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   +2 more sources

Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)? [PDF]

Clin Public Health Guidel
ABSTRACT Introduction Developing Clinical Practice Guidelines (CPGs) is resource‐intensive, making it essential to prioritise those CPG projects that are most needed. One of the rules pertains to prevalence, which excludes virtually all guideline development for rare diseases. Still, guidance is needed for their management.
Hieltjes IJ, Gaasterland CMW, Hermsen M, van Wermeskerken AM, van Herk I, van der Lee JH.   +5 more
europepmc   +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

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   +1 more source

Pilot Testing of a Nurse-Led Basic Symptom Self-management Support for Patients Receiving First-Line Systemic Outpatient Anticancer Treatment: A Cluster-Randomized Study (Symptom Navi Pilot Study). [PDF]

, 2021
BACKGROUND The Symptom Navi Program (SNP) is a nurse-led intervention supporting basic symptom self-management for patients with any cancer diagnosis. The SNP has been accepted by patients and healthcare professionals alike.
Borner, M., Stoffel, Barbara, Kuhn-Bächler, T., Zürcher-Florin, Sabin, Biber, R., Peters, Solange, Bana, Marika, Bütikofer, Lukas, Kropf-Staub, S., Biber, Rebecca, Kropf-Staub, Susanne, Malin, Diana, Eicher, Manuela, Cantoni, Nathan, Näf, Ernst, Ribi, Karin, Näf, E., Bütikofer, L., Eicher, M., Borner, Markus, Malin, D., Bana, M., Ribi, K., Blaeuer, Cornelia, Seeger, T., Kuhn-Bächler, Trudy, Peters, S., Betticher, Daniel, Blaeuer, C., Stoffel, B., Cantoni, N., Zürcher-Florin, S., Seeger, Thomas, Betticher, D.   +33 more
core   +3 more sources

Building health: an epidemiological study of "sick building syndrome" in the Whitehall II study [PDF]

, 2006
Objectives: Sick building syndrome (SBS) is described as a group of symptoms attributed to the physical environment of specific buildings. Isolating particular environmental features responsible for the symptoms has proved difficult.
Stansfeld, S.A., Marmot, A.F., Warwick, E., Eley, J., Stafford, M., Marmot, M.G., A F Marmot   +6 more
core   +1 more source

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

A comparison of cognitive function, sleep and activity levels in disease-free breast cancer patients with or without cancer-related fatigue syndrome. [PDF]

, 2013
Chronic fatigue is a feature in a subset of women successfully treated for breast cancer but is not well characterised. This study examines differences in objective cognitive function, activity levels and sleep in disease-free women who do and do not ...
Minton, O, Stone, PC
core   +1 more source