Results 61 to 70 of about 39,984 (208)

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
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.
Kexin Fu, Yonglin Huang, Valerie Bowen, Katherine McCurdy, Reina B. Tan, Colin K. L. Phoon, Lindsay Marjoram, Alex Dahlen   +7 more
wiley   +1 more source

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

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  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 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

Mitochondrial Homeostasis in Pancreatic β Cell Function: Mechanisms and Therapeutic Targets for Diabetes

Journal of Diabetes, Volume 18, Issue 5, May 2026.
This review highlights mitochondrial dysfunction as a central driver of pancreatic β cell failure in diabetes, caused by disrupted mitochondrial quality control (MQC), oxidative stress, and impaired organelle communication. Emerging therapies, such as DRAK2 inhibitors and metabolic reprogramming agents, show promise in restoring β cell function by ...
Ruihan Li, Bingqian Zhang, Yuxin Zhang, Yang Yang, Yuting Lu, Jingya Li   +5 more
wiley   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Stem Cell Research
Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic stem cell (hESC) model of Barth syndrome (TAFAZZINΔ3 C15) in a female background (H9 hESC) using CRISPR/Cas9 gene editing ...
Yau Chung Low, Cameron L. McKnight, David A. Elliott, David R. Thorburn, Ann E. Frazier   +4 more
doaj   +1 more source

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

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
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

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, Cangelosi, Adriana, Dailoff, Gabriela Cecilia, Díaz Carrasco, Juan María, Fernandez Miyakawa, Mariano Enrique, Geoghegan, Patricia, Leiva, Carlos Leónidas, Redondo, Enzo Alejandro, Redondo, Leandro Martin   +8 more
core   +1 more source

Gendering the Menstrual Cycle in Behavioral Neuroendocrinology

American Journal of Human Biology, Volume 38, Issue 4, April 2026.
ABSTRACT The menstrual cycle is increasingly described as a “vital sign of the female body,” with the literature suggesting cycle‐related brain and behavioral changes. With growing interest in the effects that the menstrual cycle has on the brain, body and mind, characterizing what constitutes healthy cycle‐related change has become a central goal of ...
Annie Duchesne, Kiranjot Kaur Jhajj, Nicole White   +2 more
wiley   +1 more source