Results 81 to 90 of about 2,793 (181)

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

Ochronosis

Indian Journal of Dermatology, 2000
Ochronosis is a rare disorder, which presents with distinct clinical and biochemical features. A fifty seven year old male presented with fracture femur, osteoarthritis, Osler’s sign, alkaptonuria and cutaneous ochronosis.
Srikumar G, Hameedultah A, Arunadevi R, Somasundaram V, Parijatham B O, Ilangovan G   +5 more
doaj  

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations

Orthopedic Research and Reviews, 2023
Moh’d S Dawod,1 Mohammad N Alswerki,2 Asem J Darabah,1 Anas O Satari,1 Asaad O Alrwashdeh,3 Zaid N Alaqarbeh,3 Mohammed S Alisi2,4,5 1Mutah University, Faculty of Medicine, Al-karak, Jordan; 2Jordan University Hospital, Amman, Jordan; 3Al-Karak Hospital,
Dawod MS, Alswerki MN, Darabah AJ, Satari AO, Alrwashdeh AO, Alaqarbeh ZN, Alisi MS   +6 more
doaj  

Ochronotic Heart Disease: A Case Report of Aortic Valve Replacement and Coronary Artery Bypass Grafting in a Patient with Alkaptonuria [PDF]

Journal of Cardio-Thoracic Medicine
Introduction: Alkaptonuria is an autosomal recessive genetic disorder that disrupts tyrosine metabolism, causing the buildup of homogentisic acid and its oxidized derivatives in tissues, including the heart, leading to potential health issues ...
Mahdi Kahrom, Masoomeh Tabari, Shiva Rezaeian Deloei, Elham Shaarbaf Eidgahi   +3 more
doaj   +1 more source

Alkaptonuria and ochronotic arthritis

, 1963
A report is presented on two cases of alkaptonuria in which characteristic radiological changes were found. © 1963 E. & S.
Phocas, E., Andriotakis, C., Kaklamanis, Ph., Matsas, B.   +3 more
core  

Assessment of Thyroid Function in Patients With Alkaptonuria

, 2020
Importance: Alkaptonuria is an autosomal recessive disorder caused by pathogenic variants in the HGD gene. Deficiency of the HGD enzyme leads to tissue deposition of homogentisic acid (HGA), causing severe osteoarthropathies and cardiac valve ...
Klubo-Gwiezdzinska, Joanna, Hannah-Shmouni, Fady, Auh, Sungyoung, Filie, Armando C., Introne, Wendy J., Regier, Debra, Avadhanula, Shirisha, Burman, Kenneth D., Ciccone, Carla, Soldin, Steven J., Stolze, Brian   +10 more
core   +1 more source

Case Report - Early detection of alkaptonuria

, 2005
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy.
Shyam B. Verma
core   +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

Acute Anterior Uveitis as the Initial Presentation of Alkaptonuria

, 2009
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage ...
David, S., Padhan, P., John, S.S., Mathews, J.V.   +3 more
core   +2 more sources

Alkaptonuria [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
  +5 more sources