Results 31 to 40 of about 6,939 (158)

Blue man: Ochronosis in Otolaryngology

Clinical Case Reports, Volume 10, Issue 4, April 2022., 2022
There are several physical examination findings indicative of ochronosis in Otolaryngology. Although these discoveries can be alarming, they are not harmful and can be observed. When young patients are found to have ochronosis, a newly discovered medication can be taken to lessen the development of these physical manifestations.
Karuna Dewan, Charles Bruce MacDonald, Courtney B. Shires   +2 more
wiley   +1 more source

Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature

JIMD Reports, Volume 61, Issue 1, Page 25-33, September 2021., 2021
Abstract Four patients, from three families, with alkaptonuria receiving 4‐hydroxyphenylpyruvate dioxygenase‐inhibiting nitisinone therapy, which lowers homogentisic acid and increases tyrosine, developed vitiligo. Three of the four patients were receiving nitisinone 2 mg daily, while the fourth was on 10 mg daily.
Lakshminarayan Ranganath, Milad Khedr, Leanne A. Evans, Helen Bygott, Emily Luangrath, Elizabeth West   +5 more
wiley   +1 more source

Hip and knee replacement in patients with ochronosis: Clinical experience and literature review

Orthopedic Reviews, 2020
Patients with alkaptonuria can present ochronotic degenerative arthropathy due to the accumulation of pigments in the cartilages. Ochronotic arthropathy initially affects the spine, then there is the involvement of the other large joints, with greater ...
Cesare Meschini, Michele Cauteruccio, Maria Serena Oliva, Giuseppe Sircana, Raffaele Vitiello, Giuseppe Rovere, Francesco Muratori, Giulio Maccauro, Antonio Ziranu   +8 more
doaj   +1 more source

Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan

BioMed Research International, Volume 2021, Issue 1, 2021., 2021
Background. Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. Methods.
Raida Khalil, Dema Ali, Nesrin Mwafi, Arwa Alsaraireh, Loiy Obeidat, Eman Albsoul, Ibrahim Al Sbou’, Jing He   +7 more
wiley   +1 more source

Prótesis total de rodilla en paciente diagnosticada de artropatía ocronótica

Revista Española de Cirugía Ortopédica y Traumatología, 2021
Resumen: La ocronosis es una enfermedad genética rara del metabolismo de la fenilamina y de la tirosina en la que se produce una acumulación de ácido homogentísico. La acumulación de este provoca alcaptonuria y depósito en el tejido conectivo, provocando
M. Sabater, A. Alías, J.M. Segur
doaj   +1 more source

Alkaptonuria and ochronotic arthropathy

N.N. Priorov Journal of Traumatology and Orthopedics, 2022
Four cases of operative treatment for ochronosis arthropathy in patients with alcaptonuria are presented. In 3 patients hip joint and in 1 patient knee joint were affected. Prior to surgery all patients were treated conservatively. Two patients successfully underwent total hip replacement. Intertrochanteric femur osteotomy was performed in 1 case.
V. V. Trotsenko, V. I. Nuzhdin, T. P. Popova, S. V. Kagramanov, O. A. Kudinov, A. S. Bavashev   +5 more
openaire   +2 more sources

Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria

Arthroplasty Today, 2020
Alkaptonuria is a rare autosomal recessive metabolic disorder. It is characterized by the accumulation of homogentisic acid in the body due to a lack of enzymes that degrade it.
Jihad M. Al-Ajlouni, MD, FRCS, Mohammed S. Alisi, MD, Mohamad S. Yasin, MD, Aws Khanfar, MD, Mohammad Hamdan, MD, Ahmad Abu Halaweh, MD, Hashem Al Hawamdeh, MD, Khamis Elessi, MSc-EBM, Mohammad S. Alsbou, MD, PhD   +8 more
doaj   +1 more source

A rare cause of arthropathy: An ochronotic patient with black joints [PDF]

, 2014
INTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis of alkaptonuria includes chronic inflammation, degeneration, and eventually osteoarthritis.
Serhat, Mutlu, Harun, Mutlu, Hayrettin, Yaldız, Cuneyt, May, Ufuk, Ozkaya, Fırat, Fidan   +5 more
core   +1 more source

Ochronotic arthropathy with calcium pyrophosphate crystal deposition a light and electron microscopic study [PDF]

, 1973
Synovial fluid from a patient with ochronotic arthropathy and calcification of the capsule of the right knee contained calcium pyrophosphate crystals and dark debris.
Ralph Schumacher, H., Martinez, Virginia A., Reginato, Antonio J.   +2 more
core   +1 more source

Complex reconstruction/ replacement of both hip and knee joints in advance stage of ochronotic arthropathy- A case report

Journal of Orthopaedic Reports, 2023
Background: Ochronotic Arthropathy is very rare disorder (around one in million people). It is due to deficiency of enzyme homogentisic acid oxidase which leads to accumulation of homogentisic acid (HGA) and causes damage of several connective tissues ...
Sanjeev Jain, Sabeel Ahmad, K. Vishwas
doaj   +1 more source