Results 61 to 70 of about 39,836 (205)
Journal of Multidisciplinary Healthcare, 2015 Stacey Reynolds Department of Occupational Therapy, Virginia Commonwealth University, Richmond, VA, USA Abstract: This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome.
Reynolds S
doaj
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 +3 more
core +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly
Catalina Matias +7 more
wiley +1 more source
Effects of Cannabidiol on TAFAZZIN‐Deficient B‐Lymphoblastoid Cells
The FASEB Journal, Volume 40, Issue 6, 31 March 2026.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 ...
John Z. Chan +10 more
wiley +1 more source
Effects of Clostridium perfringens iota toxin in the small intestine of mice [PDF]
, 2017 Iota toxin is a binary toxin solely produced by Clostridium perfringens type E strains, and is structurally related to CDT from C. difficile and CST from C. spiroforme.
Bruzzone, Octavio Augusto +8 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano +108 more
wiley +1 more source
Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation. [PDF]
PLoS ONE, 2012 Cardiolipin (CL) is a mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes involved in the generation of ATP.
William A Taylor +5 more
doaj +1 more source
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, Volume 13, Issue 11, 23 February 2026.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 ...
Parmeshar Singh +17 more
wiley +1 more source
Psychosocial Functioning in Youth With Barth Syndrome [PDF]
Children's Health Care, 2009 This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality.
Eric A, Storch +7 more
openaire +2 more sources
Development and Validation of the Brief Inventory of Treatment Expectations in Chronic Pain (BITEC)
European Journal of Pain, Volume 30, Issue 2, February 2026.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)
Wolnei Caumo +8 more
wiley +1 more source