Download Alkaptonuria and Ochronosis by Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. PDF

By Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher

This publication comprehensively describes alkaptonuria and ochronosis. starting with the background, genetics, pathophysiology and diagnostics of the ailment, the authors consequently current a close characterization of its scientific manifestation within the backbone, peripheral joints, eyes, ears, visceral organs and breathing tract, its pathological anatomy and histology, in addition to differential analysis. this is often complemented via the newest information on treatment and experimental versions of alkaptonuria, and supported by way of a number of case studies. a number of photos and radiological photos rfile the medical signs, giving the reader a fantastic figuring out of the sickness. at the foundation of the editor’s and authors’ personal vast observations, the e-book bargains an research of protein metabolism and fragrant amino acids within the context of alkaptonuria. Written via overseas specialists within the box, the e-book bargains a priceless reference advisor for healthcare pros operating in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.

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Extra info for Alkaptonuria and Ochronosis

Sample text

In this stage the whole thoracic and lumbar spine is rigid, measurable signs are reduced to 1/3–1/4 of original values. This condition develops in 6–8 years after the disease onset. In completely developed clinical manifestation, lumbar and thoracic spine reaches total rigidity or even ankylosis. Measurable signs are reduced to minimal values. At the first sight, we can see that it is a severe ankylosing process of the spine that manifests with some features characteristic for ochronotic arthropathy.

This line intersects L5 spinous process. From this point, we measure, in standing position, 10 cm in proximal direction reaching LI spinous process. In healthy people, processes move away like a fan, the distance between L5 and LI is usually elongated by 5 cm, and this is called Schober’s distance. This distance is significantly reduced in AS patients even in initial stages of the disease. In spondylarthrosis, this distance is elongated less than in healthy people. We designated this sign in abbreviated form as ‘Schober × cm’.

The genetic basis of alkaptonuria. Proc. R. Soc. Edinb. : Natural history of alkaptonuria. N. Engl. J. Med. 26, 2111–2121 (2002) Clinical Manifestation of Ochronotic Arthropathy in Spine 11 Jozef Rovenský and Tibor Urbánek Content References 52 The predominant clinical presentation of ochronotic arthropathy in the skeletal system is the spine, which was affected by the disease in all our patients. While observing the patients in initial stages of the disease as well as during more detailed analysis of medical history, we found out that except for a few cases, the first subjective and objective signs were localised in spine area.

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