X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.
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http://dx.doi.org/10.1002/ccr3.434 | DOI Listing |
Clin Pharmacokinet
January 2025
Clinical Pharmacology and Toxicology Service, Anesthesiology, Pharmacology and Intensive Care Department, Geneva University Hospitals, 4 Rue Gabrielle Perret-Gentil, 1205, Geneva, Switzerland.
Background And Objective: Fexofenadine is commonly used as a probe substrate to assess P-glycoprotein (Pgp) activity. While its use in healthy volunteers is well documented, data in older adult and polymorbid patients are lacking. Age- and disease-related physiological changes are expected to affect the pharmacokinetics of fexofenadine.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08029 Barcelona, Spain.
High-throughput proteomic platforms are crucial to identify novel Alzheimer's disease (AD) biomarkers and pathways. In this study, we evaluated the reproducibility and reliability of aptamer-based (SomaScan 7k) and antibody-based (Olink Explore 3k) proteomic platforms in cerebrospinal fluid (CSF) samples from the Ace Alzheimer Center Barcelona real-world cohort. Intra- and inter-platform reproducibility were evaluated through correlations between two independent SomaScan assays analyzing the same samples, and between SomaScan and Olink results.
View Article and Find Full Text PDFPoult Sci
December 2024
Animal Breeding and Genomics, Wageningen University & Research, 6700 AH Wageningen, the Netherlands.
Impaired walking ability and leg health are commonly seen in broilers and can negatively impact their welfare. Commonly, walking ability and leg health are assessed manually, but this is time consuming and can be subjective. Automated approaches for scoring walking ability and leg health at the individual level could therefore have great added value.
View Article and Find Full Text PDFArch Toxicol
January 2025
Department of Ecotoxicology, Helmholtz Centre for Environmental Research-UFZ, Permoserstraβe 15, 04318, Leipzig, Germany.
Testing for developmental toxicity is an integral part of chemical regulations. The applied tests are laborious and costly and require a large number of vertebrate test animals. To reduce animal numbers and associated costs, the zebrafish embryo was proposed as an alternative model.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.
Background: Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms.
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