Results 1 to 10 of about 9,044 (128)

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   +4 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

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

On the descriptive validity of ICD-10 schizophrenia: Empirical analyses in the spectrum of non-affective functional psychoses [PDF]

, 2003
In order to examine the descriptive validity of ICD-10 schizophrenia, 1,476 consecutively admitted in-patients were included in the present study. ICD-10 schizophrenia (n = 951) was compared with other non-affective psychotic disorders {[}persistent ...
Bottlender, Ronald, Jäger, Markus, Möller, Hans-Jürgen, Strauss, Anton   +3 more
core   +1 more source

Long-term Symptomatic, Functional, and Work Outcomes of Carpal Tunnel Syndrome among Construction Workers [PDF]

, 2016
BACKGROUND: The long-term outcomes of carpal tunnel syndrome (CTS) including symptoms, functional status, work disability, and economic impact are unknown. METHODS: We conducted a retrospective study of 234 active construction workers with medical claims
Amick, Armstrong, Cagle, Dale, Daniell, Daniell, DeStefano, Dong, Foley, Forde, Franklin, Franzblau, Gardner, Gardner, Gimeno, Glazner, Gorsche, Hudak, Ilmarinen, Katz, Keith, Kuorinka, Levine, Lipscomb, Louie, Manktelow, Padua, Pensy, Probst, Resende, Rosecrance, Salerno, Spector, Turner, Ware, Welch, Wellman   +36 more
core   +2 more sources

Somatic, but not cognitive-affective, symptoms are associated with reduced heart rate variability in individuals with dysphoria [PDF]

, 2015
Background: Somatic, but not cognitive-affective, symptoms of depression have been associated with reduced heart rate variability (HRV), and with poor prognosis in cardiovascular patients.
Buodo, Giulia, Mennella, Rocco, MESSEROTTI BENVENUTI, Simone, Palomba, Daniela   +3 more
core   +3 more sources

Neuropsychological evaluation of blast-related concussion: Illustrating the challenges and complexities through OEF/OIF case studies [PDF]

, 2011
Background/objective: Soldiers of Operations Enduring Freedom (OEF) and Iraqi Freedom (OIF) sustain blast-related mild traumatic brain injury (concussion) with alarming regularity. This study discusses factors in addition to concussion, such as co-morbid
Charlesworth, Molly J, Ferrier-Auerbach, Amanda G, Hoelzle, James B, McGuire, Kathryn A., Nelson, Nathaniel W, Sponheim, Scott R   +5 more
core   +2 more sources

Association between oxytocin receptor gene polymorphisms and self-rated 'empathic concern' in schizophrenia [PDF]

, 2012
The nonapeptide oxytocin (OXT) and its receptor (OXTR) have been implicated in social cognition, empathy, emotion and stress regulation in humans. Previous studies reported associations between OXT and OXTR genetic polymorphisms and risk for disorders ...
Brockmann, Eva-Maria, Gallinat, Jürgen, Lehmann, Anja, Montag, Christiane, Müller, Daniel J., Rujescu, Dan   +5 more
core   +3 more sources

Wearable Platform for Automatic Recognition of Parkinson Disease by Muscular Implication Monitoring [PDF]

, 2017
The need for diagnostic tools for the characterization of progressive movement disorders - as the Parkinson Disease (PD) - aiming to early detect and monitor the pathology is getting more and more impelling.
Annese, V.F., De Venuto, D., Gallo, V.L., Mezzina, G., Scarola, V.   +4 more
core   +1 more source