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Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency.
Biomedica
December 2024
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Introduction: Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades.
Objective: To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency.
Machine Learning Reveals Signatures of Promiscuous Microbial Amidases for Micropollutant Biotransformations.
ACS Environ Au
January 2025
Eawag, Swiss Federal Institute of Aquatic Science and Technology, 8600 Dübendorf, Switzerland.
Organic micropollutants, including pharmaceuticals, personal care products, pesticides, and food additives, are widespread in the environment, causing potentially toxic effects. Human waste is a direct source of micropollutants, with the majority of pharmaceuticals being excreted through urine. Urine contains its own microbiota with the potential to catalyze micropollutant biotransformations.
View Article and Find Full Text PDFPrediction of p-phenylenediamine antioxidant concentrations in human urine using machine learning models.
J Hazard Mater
January 2025
Key Laboratory of Microbial Technology for Industrial Pollution Control of Zhejiang Province, College of Environment, Zhejiang University of Technology, Hangzhou, Zhejiang 310032, PR China. Electronic address:
p-phenylenediamine antioxidants (PPDs) are extensively used in rubber manufacturing for their potent antioxidative properties, but PPDs and 2-anilino-5-[(4-methylpentan-2yl)amino]cyclohexa-2,5-diene-1,4-dione (6PPDQ) pose potential environmental and health risks. Existing biomonitoring methods for assessing human exposure to PPDs are labor-intensive, costly, and provide limited data. Thus, there is a critical need to develop predictive models for evaluating PPDs and 6PPDQ exposure levels to facilitate health risk assessments.
View Article and Find Full Text PDFUrinary metabolic alterations associated with occupational exposure to metals and polycyclic aromatic hydrocarbons based on non-target metabolomics.
J Hazard Mater
January 2025
Guangdong-Hong Kong-Macao Joint Laboratory for Contaminants Exposure and Health, Key Laboratory of Environmental Catalysis and Health Risk Control, Institute of Environmental Health and Pollution Control, Guangdong University of Technology, Guangzhou 510006, China; Guangzhou Key Laboratory of Environmental Catalysis and Pollution Control, Guangdong Basic Research Center of Excellence for Ecological Security and Green Development, School of Environmental Science and Engineering, Guangdong University of Technology, Guangzhou 510006, China. Electronic address:
Long-term occupational exposure to metals and organics have been reported to be under great health risks. However, limited data are available on the molecular mechanism between combined exposure to metals and polycyclic aromatic hydrocarbons (PAHs) and harmful health effects. In present work, non-target metabolomics study was conducted based on urine samples from nonferrous metal smelting workers (n = 207), surrounding residents (n = 180), and the control residents (n = 187) by using ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UHPLC-QTOF-MS).
View Article and Find Full Text PDFLong-Term 5-HT Receptor Agonist NLX-112 Treatment Improves Functional Recovery After Spinal Cord Injury.
Int J Mol Sci
December 2024
Department of Neurosciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Spinal cord injury (SCI) results in functional deficits below the injured spinal level. The descending serotonergic system in the spinal cord is critically involved in the control of motor and autonomic functions. Specifically, SCI damages the projections of serotonergic fibers, which leads to reduced serotonin inputs and increased amounts of spinal serotonergic receptors.
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