نتایج جستجو برای: ochronosis

تعداد نتایج: 209  

Journal: :International journal of medical science and clinical research studies 2023

A 74-year-old male with alkaptonuria (AKU) was admitted to the emergency department left distal femur pain and Rorabeck type 2 periprosthetic fracture following total knee arthroplasty (TKA). AKU is an autosomal recessive disorder characterized by homogentisic acid buildup in connective tissues joints, leading ochronosis arthritis. Multiple joint replacements are common patients, fractures may ...

2014
Moritz Lindner Thomas Bertelmann

BACKGROUND Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of 1-9/1,000,000. While it is clear that pigment deposits lead to joint destruction, renal stone formation and ...

Journal: :N.N. Priorov Journal of Traumatology and Orthopedics 2020

Journal: :Rare diseases 2013
Jemma B Mistry Marwan Bukhari Adam M Taylor

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...

Journal: :Archives of ophthalmology 2004
Patricia Chévez Barrios Ramon L Font

tients are at risk for lagophthalmos and exposure-related keratitis. The post-LASIK neurotrophic status of these patients may further predispose them to infectious keratitis. The first case represents, to our knowledge, the earliest postLASIK human histopathologic finding (9 days post-LASIK). The neurotrophic cornea would certainly be a risk factor in the immediate postoperative period. The fir...

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