Results 31 to 40 of about 2,691 (207)

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

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

Exogenous ochronosis

Dermatology Online Journal, 2008
A 55-year-old woman with melasma develops biopsy-proved exogenous ochronosis in the setting of prolonged topical hydroquinone use. A limited number of similar reports exist in the US literature and are the basis for an FDA call to review hydroquinone-based products.
Merola, Joseph F, Meehan, Shane, Walters, Ruth F, Brown, Lance   +3 more
openaire   +4 more sources

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

Exogenous ochronosis superimposed on chronic kidney disease: A case report and review of literature

Sahel Medical Journal, 2018
Ochronosis is a rare disease characterized by speckled and diffuse pigmentation symmetrically over the face, neck, and photo-exposed areas. It can present in exogenous or endogenous form.
Ishrat Hussain Dar, Omar Farooq, Samia Rashid Mir, Ghulam Hassan Dar, Arshi Beg   +4 more
doaj   +1 more source

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. [PDF]

, 2016
BACKGROUND: Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU.
Andrea Zatkova, Andrew T Hughes, Anna M Milan, Annalisa Santucci, Anthony K Hall, Arvid Cronlund, Birgitta Olsson, Carin Junestrand, Christa van Kan, Daniela Braconi, Dinny Laan, Eftychia E Psarelli, Federica Genovese, Gordon Ross, Hana Ayoob, Helen Bygott, Helliwell, Hughes, Introne, James A Gallagher, Johan Szamosi, John J Dutton, Jonathan C Jarvis, Jozef Rovensky, Judith McCaffrey, Kim-Hanh Le Quan Sang, La Du, Lakshminarayan R Ranganath, Lennart Svensson, Lindstedt, Martina Nemethova, Mattias Rudebeck, McKiernan, Michael C Briggs, Milch, Nicolas Sireau, O'Brien, Oliver G Timmis, Peter Christensen, Phornphutkul, Preston, Ranganath, Ranganath, Richard Fitzgerald, Richard Imrich, Stewart, Suwannarat, Tinti, Torbjörn Kullenberg, Trevor F Cox, Zannoni, Zatkova   +51 more
core   +1 more source

Ochronosis as an unusual cause of valvular defect: a case report

Journal of Medical Case Reports, 2009
Introduction Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease.
Steverding Dietmar, Wilke Andreas
doaj   +1 more source

Exogenous ochronosis

Journal of the American Academy of Dermatology, 2000
Ochronosis is an uncommon condition characterized by yellow-brown pigment deposits in the dermis. It occurs in exogenous and endogenous forms. We report a case of exogenous ochronosis in a Hispanic woman and discuss the different forms of this condition. We treated the lesions with Q-switched ruby laser.
K E, Kramer, A, Lopez, C M, Stefanato, T J, Phillips   +3 more
openaire   +2 more sources

What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints? Lessons from a rare disease [PDF]

, 2016
AKU Society, the Rosetrees Foundation, the Childwick Trust, the Big Lottery and ...
Alan Boyde, James A. Gallagher, Lakshminarayan R. Ranganath, Sweet, Taylor   +4 more
core   +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