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

This ebook comprehensively describes alkaptonuria and ochronosis. starting with the background, genetics, pathophysiology and diagnostics of the ailment, the authors hence current a close characterization of its medical manifestation within the backbone, peripheral joints, eyes, ears, visceral organs and breathing tract, its pathological anatomy and histology, in addition to differential prognosis. this can be complemented via the most recent facts on treatment and experimental types of alkaptonuria, and supported via a number of case studies. various photos and radiological photos rfile the scientific indicators, giving the reader an effective knowing of the affliction. at the foundation of the editor’s and authors’ personal wide observations, the booklet bargains an research of protein metabolism and fragrant amino acids within the context of alkaptonuria. Written through foreign specialists within the box, the booklet bargains a helpful reference advisor for healthcare execs operating in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.

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Example text

Four of our patients we have followed for several years have got ochronotic changes on ears and mild subjective problems in spine area with incipient above-mentioned configuration changes and no skiagraphic changes detectable yet. In the next stage of the disease, we observe insufficient alignment of lumbar lordosis during forward bending. In some of the patients, we observed small irregular depressions in lumbar or lower thoracic spine comprising two to three spinous processes that did not align in anteflexion, but we could not qualify it as sulcus dorsalis persistens typical for spine in Bechterew’s disease.

In the cardiovascular system, careful physical, X-ray and ECG examinations revealed changes only suggesting aortic sclerosis. Other clinical symptoms did not exert significant abnormalities, and sclerotic changes appeared to be adequate to age. Our observation is in accordance with the literature. Myocardial infarction was attributed to ochronotic changes only sporadically (Lichtenstein and Kaplan 1954; Coodley and Greco 1950). Involvement of other visceral organs could not be revealed by physical or laboratory examination, and the only pathological laboratory finding was alkaptonuria.

Alkaptonuria and ochronosis. J. Bone Joint Surg. Am. : Clinical aspects of ochronosis. Wih report of a case. Am. J. Med. : Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin. Med. Res. : Cardiovascular ochronosis. Arch. Pathol. Lab. Med. : Alcaptonuria and ochronosis; with a report of three patients and metabolic studies in two. Am. J. Med. : Untersuchungen über Alkaptonurie. Z. Klin. Med. : Über Abnutzungsprodukte in Gelenken und ihre Resorption unter dem Bilde einer Synovitis detritica.

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