Results 61 to 70 of about 2,687,981 (207)

Patients with Black Hip and Black Knee Due to Ochronotic Arthropathy: Case Report and Review of Literature

open access: yesOman Medical Journal, 2013
Ochronotic arthropathy is a manifestation of longstanding alkaptonuria. With increasing age, an accumulation of pigment deposits of homogentisic acid in the joint cartilage results in ochronotic osteoarthritis.
Mehmet Ali Acar   +5 more
doaj   +1 more source

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
There has been a wide range of mutations identified in the HGD gene in alkaptonuric patients. Some HGD mutations are spread worldwide, while others are specific to certain countries. Alkaptonuria has not been extensively studied in Iran; it is likely to be high since consanguineous marriages are common.
Ahad Azami   +5 more
wiley   +1 more source

Precocious Degenerative Arthropathy And Bluish Patches On Ears : Ochronosis And Alkaptonuria

open access: yesIndian Journal of Dermatology, 2004
Alkaptonuria is a rare, autosomal recessive disorder of phenylalanin/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase.
Mahajan Vikram K   +2 more
doaj  

Potential Distribution Prediction and Metabolite Analysis of Clematis tangutica(Maxim.) Korsh. On the Qinghai Plateau

open access: yesEcology and Evolution, Volume 15, Issue 10, October 2025.
This study provides a comprehensive analysis of Clematis tangutica's habitat distribution and metabolite composition under varying environmental conditions. The MaxEnt model identified UV‐B seasonality and elevation as the primary factors shaping its distribution, with the most suitable habitats concentrated in central and eastern Qinghai.
Haiwang Zhang   +5 more
wiley   +1 more source

Alkaptonuria in a 6 Year Old Patient: Case Report

open access: yesUrology Case Reports, 2015
Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with history of darkish staining of the toilet commode following voiding. The urine when kept in a sterile container for a few hours turned black. Urine examination
Vikas Sharma   +4 more
doaj   +1 more source

Uremic Toxins and Inflammation: Metabolic Pathways Affected in Non-Dialysis-Dependent Stage 5 Chronic Kidney Disease

open access: yesBiomedicines
Chronic kidney disease (CKD) affects approximately 12% of the global population, posing a significant health threat. Inflammation plays a crucial role in the uremic phenotype of non-dialysis-dependent (NDD) stage 5 CKD, contributing to elevated ...
María Peris-Fernández   +8 more
doaj   +1 more source

Anticholinesterase activity of selected phenolic acids and flavonoids – interaction testing in model solutions

open access: yesAnnals of Agricultural and Environmental Medicine, 2015
[b][/b][b]Introduction[/b]. Alzheimer’s disease is a progressively developing neurodegenerative disorder of the central nervous system. The only present treatment of this disease is the use of acetyl- and butyrylcholinesterase inhibitors. Previously, the
Dominik Szwajgier
doaj   +1 more source

HPD is an RNA‐Binding Protein Sustaining Ovarian Cancer Cell Glycolysis, Tumor Growth, and Drug Resistance

open access: yesAdvanced Science, Volume 12, Issue 30, August 14, 2025.
HPD is identified as an RNA‐binding protein that promotes mRNA translation by binding to RRACH motifs via its double‐stranded RNA‐binding domains. This RNA‐binding activity critically sustains glycolysis in ovarian cancer cells. Disrupting HPD's RNA‐binding function effectively suppresses tumor growth and enhances therapeutic sensitivity, highlighting ...
Fei Xie   +21 more
wiley   +1 more source

First Insights Into the LC‐HRMS Profiling and Biological Activities of Crocus graveolens

open access: yesFood Science &Nutrition, Volume 13, Issue 8, August 2025.
This study reports the first comprehensive analysis of Crocus graveolens Boiss. & Reut. using LC‐HRMS, identifying 33 secondary metabolites, with rutin as the major compound (162.808 ± 4.5 μg/g extract). The extract showed moderate antioxidant activity and effectively inhibited acetylcholinesterase (30.88% ± 1.51%) and butyrylcholinesterase (61.22% ± 0.
Ezgi Ersoy   +5 more
wiley   +1 more source

A clinical case of ochronosis with involvement of the cardiac valvular apparatus and the musculoskeletal system in an 80-year-old patient

open access: yesКардиоСоматика
BACKGROUND: Ochronosis is a rare disorder caused by an inherited defect in tyrosine metabolism, in which the biochemical degradation pathway is interrupted at the stage of homogentisic acid formation.
Amina M. Alieva   +6 more
doaj   +1 more source

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