Results 21 to 30 of about 2,646 (192)

Total knee arthroplasty in ochronosis

Arthroplasty Today, 2015
Alkaptonuria is disorder of tyrosine metabolism due to deficiency of homogentisic oxidase characterized by excretion of homogentisic acid in urine, deposition of oxidized homogensitate pigments in connective tissues and articular cartilages (ochronosis).
Vaibhav G. Patel, MBBS
doaj   +1 more source

Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy

Arthroplasty Today, 2020
Alkaptonuria is a rare metabolic disorder caused by the deficiency of homogentisic acid oxidase enzyme, which is responsible for eliminating homogentisic acid from the body through the renal system.
Imran Ilyas, MD, Syed Kashif, MD, Majed F. Algashiri, MD, Samar A. Rabbani, MD, Sahar S. Aldakhil, MD, Omar A. Al-Mohrej, MD   +5 more
doaj   +1 more source

A case of alcaptonuria with fatal cardiovascular disturbance [PDF]

, 1976
A case of alcaptonuria combined with aortic insufficiency was found in a 28-year-old male. The patient was palpitating at admission. The daily excretion of homogentisic acid was 2.0-6.0 g.
Arima, Terukatsu, Haraoka, Shouichi, Imai, Masanobu, Kita, Shouichi, Tanigawa, Takashi, Tsuboi, Shuhei, Tsunashima, Takehiko   +6 more
core   +1 more source

Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre

JIMD Reports, 2020
Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression.
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher   +8 more
doaj   +1 more source

Alkaptonuuriast põhjustatud aordiklapi kitsenemus, südame pärgarteri haigus, teisene osteoartroos ja nende kirurgiline ravi [PDF]

, 2013
Alkaptonuuria on haruldane, progresseeruv ja pöördumatu geneetiline ainevahetushaigus. Klassikalise kliinilise triaadina esinevad selle korral homogentisiinhappe eritus uriiniga, sidekoe (eriti kõhrkoe) pigmentatsioon ning degeneratiivne liigesepõletik ...
Jõeste, Enn, Kals, Jaak, Kass, Ants, Paapstel, Ants, Paapstel, Kaido, Peets, Tõnu   +5 more
core   +2 more sources

Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria [PDF]

, 2017
This work was supported by the Medical Research Council (MR/L002876/1), the Royal College of Surgeons of England, Fondazione Telethon Italy (GGP10058), and Associazione Italiana Malati di Alcaptonuria (AimAKU ...
Bernardini, Braconi, Braconi, Braconi, Brown, Buttitta, Capin-Gutierrez, Caspary, Clement, Corbit, Cruz, Dai, Engel, Gallagher, Geminiani, Goldring, Goldring, Haudenschild, He, Helliwell, Hernandez-Hernandez, Hogan, Holloway, Huangfu, Huangfu, Khayyeri, Kim, La Du, Larkins, Li, Li, Lin, Lu, Ludington, Mahjoub, Mannoni, Mariani, McGlashan, McMurray, Millucci, Mistry, Moran, Mow, Nager, Neely, Neely, Ohashi, Perez, Pitaval, Polizio, Praetorius, Qin, Reilova-Velez, Renault, Rohatgi, Ross, Ruiz-Heiland, Sasaki, Satir, Schneider, Shuang, Silverman, Tanuma, Thompson, Thompson, Thyberg, Tinti, Tran, Tucker, Tummala, Valderrama, Wang, Wann, Waters, Wei, Wen, Wong, Wood, Wright, Zhu   +79 more
core   +1 more source

Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? [PDF]

, 2016
The hypothesis that is proposed is that tyrosinase, an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal recessive condition first used by Archibald Garrod to describe the theory of ...
Bleakley, Aaron, Kammath, Vishnu, Taylor, Adam Michael   +2 more
core   +1 more source

Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. [PDF]

, 2015
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine.
A Schulz, AE Garrod, AJ Preston, AM Taylor, BN Du La, C Bory, C Phornphutkul, L Tinti, PJ McKiernan, SS Glasson, WJ Introne   +10 more
core   +1 more source

Ochronotic Arthropathy: A Report of Two Cases

Southern Clinics of Istanbul Eurasia, 2020
Ochronosis is an entity characterized by deposition of homogentisic acid and metabolites in connective tissues, such as joint cartilage, skin and sclera.
Selma Şengiz Erhan, Sevinç Hallaç Keser, Kubilay Gülsever, Sibel Sensu   +3 more
doaj   +1 more source

Bilateral Breast Ochronosis: a Case Report

JPRAS Open, 2021
: Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues.
Fatema A.J. AbdulKarim, Safwat M. Ibrahim, Arnold AD Hill, Nadeem Ajmal   +3 more
doaj   +1 more source