Results 51 to 60 of about 39,836 (205)

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Orphanet Journal of Rare Diseases, 2021
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin, Guido Pieles   +5 more
doaj   +1 more source

Effectiveness of a Low‐Intensity Self‐Guided Psychoeducational Intervention for Individuals Waitlisted for Specialised Eating‐Disorder Treatment: A Randomised Controlled Trial

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Gaining access to evidence‐informed treatment for eating disorders (EDs) is challenging, and this creates interest in the possible benefits of self‐help treatment methods. We investigated the effectiveness of receiving evidence‐informed self‐guided psychoeducation, delivered to individuals while on a waitlist for specialised ED care.
Linda Booij, Barbara Barth, Micael Thériault, Bronwyn Raykos, Peter McEvoy, Howard Steiger   +5 more
wiley   +1 more source

BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

Российский кардиологический журнал, 2018
Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric ...
O. V. Melnik, T. S. Loevets, T. L. Vershinina, A. Ya. Gudkova, Yu. V. Fomicheva, A. A. Kostareva, T. M. Pervunina, E. S. Vasichkina   +7 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Outlook Magazine, Autumn 2011 [PDF]

, 2011
https://digitalcommons.wustl.edu/outlook/1184/thumbnail ...

core   +1 more source

Long‐term outcomes of gastric bypass surgery in two Lusitano foals: Contemporary evidence for surgical decision‐making

Equine Veterinary Education, EarlyView.
Summary Gastric outflow obstruction (GOO) occasionally requires surgical intervention in foals when medical management fails. Current literature lacks consensus on several surgical decisions, with most comprehensive reports dating back over a decade. Critical aspects—including jejunal loop orientation and necessity of jejunojejunostomy—remain debated ...
P. Fernández Hernández, M. Valero González, F. Bulnes Jiménez, N. Venegas Chávez, B. Fuentes Romero, M. Iglesias García, J. Jiménez Fragoso, M. Martín Cuervo, L. J. Ezquerra Calvo   +8 more
wiley   +1 more source

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome

Frontiers in Physiology, 2021
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is an important enzyme responsible for synthesizing biologically relevant cardiolipin (for heart and skeletal muscle, cardiolipin
Mario Elkes, Martin Andonovski, Daislyn Vidal, Madison Farago, Ryan Modafferi, Steven M. Claypool, Paul J. LeBlanc   +6 more
doaj   +1 more source

Early adversity and the comorbidity between metabolic disease and psychopathology

The Journal of Physiology, EarlyView.
Abstract figure legend Hierarchical diagram representing the interplay between the genetic background and early life adversities and its effect on multiple physiological processes that ultimately impact on the risk for the comorbdity between psychopathology and cardiometabolic disorders.
Ameyalli Gómez‐Ilescas, Patricia Pelufo Silveira   +1 more
wiley   +1 more source