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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFMeasuring Speech Discrimination Ability in Sleeping Infants Using fNIRS-A Proof of Principle.
Trends Hear
January 2025
Bionics Institute, East Melbourne, VIC, Australia.
This study used functional near-infrared spectroscopy (fNIRS) to measure aspects of the speech discrimination ability of sleeping infants. We examined the morphology of the fNIRS response to three different speech contrasts, namely "Tea/Ba," "Bee/Ba," and "Ga/Ba." Sixteen infants aged between 3 and 13 months old were included in this study and their fNIRS data were recorded during natural sleep.
View Article and Find Full Text PDFCharacteristics of Pediatric Allergic Rhinitis With Different Disease Severity.
Mediators Inflamm
January 2025
Department of Otolaryngology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
Although numerous studies have focused on diagnostic biomarkers to help identify allergic rhinitis (AR), data on the characteristics of pediatric AR with different severity is limited. We aimed to compare the characteristics of pediatric AR with different severity. A total of 1054 children with AR were enrolled and classified into mild intermittent AR, mild persistent AR, moderate-to-severe intermittent AR, and moderate-to-severe persistent AR.
View Article and Find Full Text PDFThe role of ferroptosis in colorectal cancer and its potential synergy with immunotherapy.
Front Immunol
January 2025
Department of Pathology, School of Basic Medical Sciences, Xinxiang Medical University, Xinxiang, China.
Colorectal cancer (CRC) is one of the most prevalent and deadly malignancies worldwide. Recently, ferroptosis, a novel form of regulated cell death characterized by iron dependency and lipid peroxidation, has garnered significant attention from researchers. The mechanisms underlying ferroptosis, including intracellular iron levels, lipid peroxidation, and antioxidant system regulation, offer new insights into cancer treatment strategies.
View Article and Find Full Text PDFRegulation of interferon alpha production by the MAGUK-family protein CASK under H5N1 infection.
Front Immunol
January 2025
Immunology Research Center, National Health Research Institute, Zhunan, Taiwan.
CASK, a MAGUK family scaffold protein, regulates gene expression as a transcription co-activator in neurons. However, the mechanism of CASK nucleus translocation and the regulatory function of CASK in myeloid cells remains unclear. Here, we investigated its role in H5N1-infected macrophages.
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