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Alkaptonuria and Ochronosis

Editat de Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher
en Limba Engleză Hardback – 7 apr 2015
This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editor’s and authors’ own extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.
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Specificații

ISBN-13: 9783319151076
ISBN-10: 331915107X
Pagini: 158
Ilustrații: VIII, 156 p. 56 illus., 26 illus. in color.
Dimensiuni: 155 x 235 x 15 mm
Greutate: 0.41 kg
Ediția:2015
Editura: Springer International Publishing
Colecția Springer
Locul publicării:Cham, Switzerland

Public țintă

Professional/practitioner

Cuprins

Introduction.- Alkaptonuria and Ochronosis.- History.- Metabolism of Aromatic Amino Acids.- Tyrosine Metabolism Disorders.- Detection of Homogentisic Acid in Plasma and Urine.- Alkaptonuria Genetics.- Experimental Alkaptonuria in Animals.- Experimental Models of Alkaptonuria and Ochronosis.- Ochronotic Arthropathy.- Clinical Manifestation of Ochronotic Arthropathy in the Spine.- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Spine.- Clinical Manifestation of Ochronotic Arthropathy in the Peripheral Joints.- Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in the Romani Community.- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of the Peripheral Joints.- Manifestations of Alkaptonuric Ochronosis in the Eye.- Symptoms of Alkaptonuria and Ochronosis in the Ear.- Manifestations of Alkaptonuria and Ochronosis in the Visceral Organs.- Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract.- Pathological Anatomy and Histology of Ochronosis.- Cellular and Molecular Patholgenesis of Ochronosis.- Picture of Synovial Effusion in Ochronosis.- Coincidence of Alkaptonuric Ochronosis with Other Diseases.- Differential Diagnosis of the Disease.- Sine Syndromes in Alkaptonuria.- History of Nitisinone (NTBC).- Case Reports.- References.

Textul de pe ultima copertă

This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editor’s and authors’ own extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.

Caracteristici

Describes the latest findings in the diagnosis and treatment of the disease Detailed analysis of the topic of alkaptonuria on the basis of a large amount of own observations, results and images Interesting for a broad spectrum of health care professionals