Results 61 to 70 of about 3,621 (182)

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Kendall A. Flaharty, Vibha Chandrasekar, Irene J. Castillo, Dat Duong, Carlos R. Ferreira, Suzanna Ledgister Hanchard, Ping Hu, Rebekah L. Waikel, Francis Rossignol, Wendy J. Introne, Benjamin D. Solomon   +10 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

КардиоСоматика
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, Irina V. Kovtyukh, Irina E. Baykova, Elvira A. Khachirova, Albina B. Sultangalieva, Alexander A. Melnikov, Igor G. Nikitin   +6 more
doaj   +1 more source

No silver lining with health misinformation: argyria caused by intentional silver consumption

Medical Journal of Australia, Volume 223, Issue 2, Page 68-70, July 2025.
Luke Collins, Logesh Palanikumar, Stephen Bacchi   +2 more
wiley   +1 more source

Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report

Journal of Cardiothoracic Surgery
Background Alkaptonuria is a rare congenital metabolic disorder characterized by homogentisic acid accumulation in body cartilage and connective tissues due to a deficient homogentisic acid dioxygenase enzyme.
Saeid Hosseini, Soheila Salari, Mohammad Javad Alemzadeh Ansari, Mahshid Hesami, Sepideh Banar, Mohammad Amin Shojaei   +5 more
doaj   +1 more source

Knee degenerative osteoarthritis secondary to ochronosis (case report)

Travmatologiâ i Ortopediâ Rossii, 2013
Alkaptonuria is rare disease with deficiency of homogentisate-1,2-dioxygenase enzyme, resulting in excess deposition of homogentisic acid in connective tissue. This deposition leads to ochronosis - brownish-black pigmentation of connective tissue.
V. V. Bliznyukov, A. N. Kovalenko, V. P. Rumakin   +2 more
doaj   +1 more source

Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial. [PDF]

Cells, 2023
Ooi N, Cooper IR, Norman B, Gallagher JA, Sireau N, Bou-Gharios G, Ranganath LR, Savage VJ.   +7 more
europepmc   +1 more source

Homogentisic Acid and Gentisic Acid Biosynthesized Pyomelanin Mimics: Structural Characterization and Antioxidant Activity. [PDF]

Int J Mol Sci, 2021
Al Khatib M, Costa J, Spinelli D, Capecchi E, Saladino R, Baratto MC, Pogni R.   +6 more
europepmc   +1 more source

Endogenous ochronosis with keratoelastoidosis marginalis

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2019
Endogenous ochronosis is a manifestation of alkaptonuria, a rare metabolic disease due to homogentisic acid oxidase deficiency. Darkened urine and arthropathy are the other two components that complete the triad of alkaptonuria. Pigmentation of skin, the
R Mythreyi, Adikrishnan Swaminathan, Anuradha Priyadarshini, Sudha Rangarajan, S Murugan   +4 more
doaj   +1 more source

Cytotoxic activity of strawberry tree (Arbutus unedo L.) honey, its extract, and homogentisic acid on CAL 27, HepG2, and Caco-2 cell lines. [PDF]

Arh Hig Rada Toksikol, 2022
Jurič A, Huđek Turković A, Brčić Karačonji I, Prđun S, Bubalo D, Durgo K.   +5 more
europepmc   +1 more source

Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation. [PDF]

JIMD Rep, 2021
Wilson PJM, Ranganath LR, Bou-Gharios G, Gallagher JA, Hughes JH.   +4 more
europepmc   +1 more source