Results 41 to 50 of about 4,864,231 (177)

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 1-24, February 2026.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy, Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery, Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association, Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care   +5 more
wiley   +1 more source

A Rare Association of Atrial Septal Defect with Retinitis Pigmentosa in an Adult: Coincidence or Syndromic Link [PDF]

Journal of Clinical and Diagnostic Research
Atrial Septal Defect (ASD) and Retinitis Pigmentosa (RP) are individually well-recognised clinical entities, but their co-occurrence in an adult patient without a defined syndromic diagnosis is exceptionally uncommon.
Sumedh Krishna, Vignesh Raveekumaran
doaj   +1 more source

Patterns of Postmastectomy Radiotherapy in Immediate Breast Reconstruction—Results From the iBRA‐2 Cohort Study

International Journal of Breast Cancer, Volume 2026, Issue 1, 2026.
Purpose Long‐term data indicate that postmastectomy radiotherapy (PMRT) is associated with improved overall survival in node‐positive breast cancer patients. Immediate breast reconstruction (IBR) remains controversial in the context of planned PMRT, but rates of IBR are increasing.
Tim Rattay, Adam Trickey, Rachel L. O’Connell, Rajiv V. Dave, Joanna Skillman, Nicola L. P. Barnes, Matthew D. Gardiner, Chris Holcombe, Shelley Potter, Ivana Ribeiro   +9 more
wiley   +1 more source

A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways

Journal of Lipid Research, 2005
Branched-chain fatty acids (such as phytanic and pristanic acid) are ligands for the nuclear hormone receptor peroxisome proliferator-activated receptor α (PPARα) in vitro.
J. Gloerich, N. van Vlies, G.A. Jansen, S. Denis, J.P.N. Ruiter, M.A. van Werkhoven, M. Duran, F.M. Vaz, R.J.A. Wanders, S. Ferdinandusse   +9 more
doaj   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source

Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40

Neurobiology of Disease, 2011
The accumulation of the two branched-chain fatty acids phytanic acid and pristanic acid is known to play an important role in several diseases with peroxisomal impairment, like Refsum disease, Zellweger syndrome and α-methylacyl-CoA racemase deficiency ...
Nicol Kruska, Georg Reiser
doaj   +1 more source

Uncovering Hyperhomocysteinemia: Global Risk Patterns and Molecular Disruption in Brain and Vascular Health

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
Elevated homocysteine results from genetic variants, impaired one‐carbon metabolism, nutritional deficiencies, and metabolic disorders. Hyperhomocysteinemia drives oxidative stress, inflammation, excitotoxicity, and epigenetic disruption, affecting multiple organs and systems.
Osmar Vieira Ramires Júnior, Gustavo Ricardo Krupp Prauchner, Alessandra Schmitt Rieder, Ana Karla Oliveira Leite, Clarissa Penha Farias, Angela T. S. Wyse   +5 more
wiley   +1 more source

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

, 2010
International audienceObjective: to evaluate the long-term effectiveness of dietary therapy with regular dietetic reinforcement for Adult Refsum disease Methods: Retrospective case note analysis of records of plasma phytanic acid and hospital admission ...
Baldwin, Eleanor J, Sidey, Margaret C, E. J. Baldwin, Harley, Claire, M. D. Feher, C. Harley, Gibberd, F Brian, A. S. Wierzbicki, F. B. Gibberd, M. C. Sidey, Wierzbicki, Anthony S, Feher, Michael D   +11 more
core   +1 more source

Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders

Journal of Lipid Research, 1997
Peroxisomal disorders arise either from defects in the biogenesis of peroxisomes or from the defective synthesis of one or more peroxisomal enzymes. These defects result in metabolic disturbances in peroxisomal beta-oxidation of various fatty acids and ...
Y Y van der Hoek, R J Wanders, A E van den Ende, H G Kraft, B R Gabel, J J Kastelein, M L Koschinsky   +6 more
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source