Results 11 to 20 of about 925 (85)

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases [PDF]

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, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +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

Zika Virus Inoculation During Pregnancy Impaired Maternal Care and Altered Prolactin and Corticosterone Levels in Rats

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Zika virus (ZIKV) is an Orthoflavivirus known for its teratogenicity and for causing congenital Zika syndrome (CZS) in the offspring, but recent studies suggest a negative impact on maternal brain health and behavior following gestational ZIKV inoculation.
Meirylanne Gomes‐da‐Costa, Adriana Souza dos Santos, Anna Luísa Lothhammer Bohn, Bruna Carolina de Castro Saturnino, Gabrielle Batista de Aguiar, Gabriela Barth Jacobs, Chris Krebs Danilevicz, Ana Paula Muterle Varela, Thais Fumaco Teixeira, Paulo Michel Roehe, Lenir Orlandi Pereira   +10 more
wiley   +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, Volume 34, Issue 4, Page 1089-1098, July 2026.
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, Micaël Thériault, Bronwyn Raykos, Peter McEvoy, Howard Steiger   +5 more
wiley   +1 more source

Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

Clinical and Public Health Guidelines, Volume 3, Issue 3, July 2026.
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.
Iméze J. Hieltjes, Charlotte M. W. Gaasterland, Marieke Hermsen, Anne Marie van Wermeskerken, Ilse van Herk, Johanna H. van der Lee   +5 more
wiley   +1 more source

Aberrant TMPRSS6‐Protease Regulation of Disease Mutant HCN4–KCNE1 Channel Complex Depends on the KCNE1‐G38S Polymorphism

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
TMPRSS6‐mediated cleavage of the HCN4–KCNE1 channel complex may modulate disease phenotype in a KCNE1 genotype‐dependent manner. ABSTRACT The sinoatrial node pacemaker channel HCN4 plays a central role in cardiac automaticity, and disease‐associated variants can predispose to atrial arrhythmias.
David Linhoff, Minay Mertens, Ricarda Zimmermann, Stefan Peischard, Christoph Brenker, Thomas Budde, Sven Meuth, Christos Gatsogiannis, Annika Lüttjohann, Liudmila Sosulina, Jürgen Hescheler, Nathalie Strutz‐Seebohm, Guiscard Seebohm   +12 more
wiley   +1 more source

Evaluating Continuous Glucose Monitoring (CGM) Derived Glucose Variability in Athletes Clinically Diagnosed With Relative Energy Deficiency in Sport (REDs)

European Journal of Sport Science, Volume 26, Issue 6, June 2026.
ABSTRACT Relative Energy Deficiency in Sport (REDs) is a multifactorial condition with significant long‐term health and performance implications. Acute low energy availability (LEA) may suppress glucose levels, particularly nocturnally; however, this has not been investigated in athletes with clinically diagnosed REDs.
Penelope A. Matkin‐Hussey, Dane F. Baker, Gregory R. Cox, Vernon Coffey, Amy‐Lee Bowler, Sarah Beable, Megan Ogilvie, Katherine E. Black   +7 more
wiley   +1 more source

Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi, Azadeh Niknejad, Elaheh Amini   +2 more
wiley   +1 more source

Early adversity and the comorbidity between metabolic disease and psychopathology

The Journal of Physiology, Volume 604, Issue 11, Page 4338-4377, 1 June 2026.
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

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