Respiratory gases of synovial fluids. An approach to synovial tissue circulatory-metabolic imbalance in rheumatoid arthritis.
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OBJECTIVE: To discuss the case of a patient with ochronotic arthropathy whose symptoms were treated with chiropractic care. An emphasis is placed on this condition's radiographic features. CLINICAL FEATURES: A 59-year-old woman with pain in her low back, right knee, and left ankle sought chiropractic evaluation. Black pigmentation was found in the sclera of both eyes, and homogentisic acid was present in the urine. Orthopedic evaluation revealed uncomplicated, nonspecific joint pain, and radiographs demonstrated characteristic spinal changes. INTERVENTION AND OUTCOME: The patient was treated with chiropractic manipulation, physiotherapy modalities, bracing, and exercises. This type of therapy was successful in reducing the symptoms and helped decrease the severity and frequency of acute exacerbations. CONCLUSION: Ochronotic arthropathY is a rare metabolic disorder that can be diagnosed from spinal radiographs. Chiropractic care is an appropriate tool for reducing its symptomatology.
We report the case of a 62 year old man diagnosed of alkaptonuria who was referred to our department to undergo bone scintigraphy for polyarthralgia. The patient had a history of pain in lumbar and thoracic spine, right shoulder and left knee. Bone scintigraphy showed multiple joint disease with increased uptake in both shoulders, knees and spine. Higher uptake stood out in painful right shoulder and left knee joints. Ochronotic arthropathy that is developed in alkaptonuric patients is a degenerative joint disease. X-ray studies in this patient showed marked degenerative arthrosis in knees and shoulders, without more intense involvement in the symptomatic joints. Lumbar spine X-rays showed intervertebral disk calcification with disk collapse and fusion of the vertebral bodies with relative sparing of sacroiliac joint, which is a classic feature of ochronotic arthropathy. This case highlights the utility of bone scintigraphy in the evaluation of joint involvement as well as its correlation with clinical course and potential usefulness in the follow-up of this disease.
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Localized deposition of ochronotic pigment in the flexor digitorum profundus tendons was associated with triggering of the fingers in one patient. The case history and histologic studies suggest that repetitive trauma might be a major factor in initiating a localized reaction enhancing pigment deposition in the flexor tendon.
Ochronotic arthropathy is a disorder resulting from the deposition of homogentisic acid derivatives in the articular cartilage and the menisci. Large joints of the appendicular skeleton are preferentially affected. The clinical picture resembles that of degenerative joint disease. We present the arthroscopic findings in the shoulder and the knee in a 40-year-old man with ochronotic arthropathy and discuss the role of arthroscopy in the diagnosis and management of this rare metabolic disorder.
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BACKGROUND: Alkaptonuria is a rare single-gene disorder characterized by black pigmentation of cartilage and other connective tissues. Premature degenerative arthritis affects the large joints in many of these of patients. Medical treatment is limited to a protein-restricted diet (phenylalanine and tyrosine) with surgery reserved for end-stage joint disease. As in other metabolic bone diseases, there are concerns about the quality and strength of affected bones and therefore the suitability and longevity of replacement arthroplasty. The histopathology and outcome of joint replacement for alkaptonuric arthritis is unknown and limited to sporadic case reports. PATIENTS AND RESULTS: We describe 11 joint replacements in 3 patients with alkaptonuric polyarthropathy, including shoulder and elbow replacements not previously reported. No prosthetic failures occurred in up to 12 years of follow-up. INTERPRETATION: Total joint replacement is an acceptable treatment for degenerative joint disease in alkaptonuric patients, with implant survival comparable to that found in patients with osteoarthritis.
The authors report on 18 members of four generations of an alkaptonuric family. All three males in the third generation are clinically affected; two members of the family tree have undergone major joint surgery.
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Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.
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A 75-year-old man was diagnosed with alcaptonuria by direct identification of homogentisic acid in the urine using gas chromatography-mass spectrometry. Complications included valvular heart disease with marked calcification detected by two-dimensional color-Doppler echocardiography and recurrent bacterial infection. Immunological analyses revealed a reduced number of T cells with compensatory expansion of CD56+, CD57+ natural killer (NK) cell population and impaired functions of cellular immunity such as phytohemagglutinin response, antibody-dependent cellular cytotoxicity, NK activity and interleukin-2 production. Humoral immunity and neutrophil functions were considered to be normal. This is the first reported case of alcaptonuria to our knowledge in which immunological abnormality was documented.