Results 11 to 20 of about 6,012,905 (123)

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   +5 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

Erdbeschreibung von Kursachsen und den iezt dazu gehörenden Ländern : für die Jugend

Vorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Merkel, Dankegott Immanuel
core   +3 more sources

#01-#06 Fredrik Barth

, 2021
This flyer series (1 HEX) is a précis from a tutorial process with Prof. Fredrik Barth. It also develops a view of the main concerns and arguments in the resulting thesis (Theodor Barth) available on KHiODA (and is available for readers who wish to go ...
Barth, Theodor
core  

Efficacy of Transdiagnostic Emotion‐Focused Therapy in the Treatment of Depression and Anxiety Symptoms: A Quasi‐Experimental Study

Counselling and Psychotherapy Research, Volume 26, Issue 4, December 2026.
ABSTRACT Objectives This study is among the first to assess the efficacy of teletherapy‐delivered Transdiagnostic Emotion‐Focused Therapy (EFT‐T) for university students with depression and anxiety symptoms. Methods Therapy was offered in a 12–16 session format. Forty students with depression and anxiety symptoms (diagnosed using the Mini‐International
Petr Mikoška, Ľubor Pilárik, Lukáš Novák, Michaela Ladmanová, Tomáš Bok, Martin Fülep, Ladislav Timulak   +6 more
wiley   +1 more source

Sex and Gender Differences in Physical Activity, Sedentary Behavior, and Sleep During Traumatic Brain Injury Recovery: A Narrative Review

European Journal of Sport Science, Volume 26, Issue 9, September 2026.
ABSTRACT Traumatic brain injury (TBI) is a complex neurological condition with enduring consequences that extend well beyond the initial insult. Once regarded primarily as an acute event, TBI is now increasingly recognized as a chronic disorder associated with cognitive, emotional, and physical impairments.
Goretti España‐Irla, Madeleine Perko, Emma M. Tinney, Mark C. Nwakamma, Martina Anto‐Ocrah, Timothy P. Morris   +5 more
wiley   +1 more source