A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy

Jebaraj, Isaac; Chacko, Bobby; Chiramel, George Koshy; Matthai, Thomas; Parameswaran, Apurve

doi:10.4103/0971-3026.113628

Cited by 9 publications

(5 citation statements)

References 13 publications

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“…Recently, the importance of nuclear magnetic techniques in helping the diagnosis of ochronotic arthropathy [25] and the possible use of spine radiograph in the diagnosis and staging of ochronotic spondyloarthropathy [26] have been pointed out.…”

Section: Diagnosis Of Alkaptonuriamentioning

confidence: 99%

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria

Braconi

Millucci

Ghezzi

et al. 2013

Expert Review of Proteomics

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Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phenylalanine that has been poorly characterized at molecular level. As a genetic disease, AKU is present at birth, but its most severe manifestations are delayed due to the deposition of a dark-brown pigment (ochronosis) in connective tissues. The reasons for such a delayed manifestation have not been clarified yet, though several lines of evidence suggest that the metabolite accumulated in AKU sufferers (homogentisic acid) is prone to auto-oxidation and induction of oxidative stress. The clarification of the pathophysiological molecular mechanisms of AKU would allow a better understanding of the disease, help find a cure for AKU and provide a model for more common rheumatic diseases. With this aim, we have shown how proteomics and redox proteomics might successfully overcome the difficulties of studying a rare disease such as AKU and the limitations of the hitherto adopted approaches.

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Section: Diagnosis Of Alkaptonuriamentioning

confidence: 99%

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria

Braconi

Millucci

Ghezzi

et al. 2013

Expert Review of Proteomics

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“…All patients underwent physical examination, including general body and neurologic assessment and evaluation of joint mobility and pain, gait, and skeletal abnormalities. Ochronotic spondyloarthropathy was assessed using the simplified radiological staging by Jebaraj et al, 16 based on radiographic findings of the thoracolumbar spine. The severity of disease was also assessed using the AKU Severity Score Index.…”

Section: Patient Data and Proceduresmentioning

confidence: 99%

Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria

Brunetti

Tummolo

Damato³

et al. 2018

The American Journal of Pathology

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Alkaptonuria (AKU) is a rare disorder characterized by the deficiency of the enzyme homogentisate 1,2-dioxygenase and consequent homogentisate accumulation, which leads to progressive and severe osteoarthopathy starting from the second decade of life. Thus, in AKU patients, bone involvement represents an important clinical issue, which we investigated. Serum levels of receptor activator of NF-κB ligand (RANKL), osteoprotegerin, sclerostin, Dickkopf-1, and bone remodeling markers were measured in nine AKU patients (two children and seven adults) and 22 controls, together with lumbar spine bone mineral density (LS-BMD) and femoral-BMD. In the two AKU children, the average of LS-BMD and femoral-BMD Z-scores were within the normal range, but reduced with respect to the controls. Otherwise, in the adult AKU patients, LS-BMD T-score was inside the normal range, but femoral-BMD T-score reached osteopenic levels. Consistently, in AKU adults, higher RANKL and C-terminal telopeptide of collagen type 1 and lower osteoprotegerin levels were observed than in controls. Otherwise, spontaneous osteoclastogenesis was already evident in peripheral blood mononuclear cell cultures from AKU children, together with a high percentage of circulating osteoclast precursors. Osteoclastogenesis was sustained by the high levels of tumor necrosis factor-α, RANK, RANKL, and LIGHT. In conclusion, the altered osteoclastogenesis was observed already in AKU children, despite the absence of evident injury. Thus, a preventive approach in young patients, targeting osteoclast activity, may prevent the macroscopic bone disease that appears in adult AKU.

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“…3,47,48 Nonetheless, the overall alignment of the spine in long-standing ochronosis might be mild kyphosis, which is not usually confused with AS. 6,31,32,34,51 The most frequent extraspinal joint involvement in ochronosis is symmetrical sacroiliac pain. Peripheral joint arthritis develops in the late stage and generally affects large joints such as the hip and knee.…”

Section: Discussionmentioning

confidence: 99%

“…Multiple vacuum phenomena inside the disc, which is another feature of ochronosis, might be demonstrated on CT scans. 6,31 On MR images, in the early stages the intensity of the affected disc usually does not differ from those being degenerated without ochronosis. In this period the involved discs are uniformly isointense on T1-weighted images, suggesting widespread degeneration of the vertebral column.…”

Section: Discussionmentioning

confidence: 99%

“…In this period the involved discs are uniformly isointense on T1-weighted images, suggesting widespread degeneration of the vertebral column. 6,15,29,31,63,65 Late in the disease, the striking feature is the narrowing of the disc spaces, which is accompanied with hypointensity of the disc material on T2-weighted images due to calcification. However, if the vacuum phenomenon is present in the disc space, it might be demonstrated as hyperintensity.…”

Section: Discussionmentioning

confidence: 99%

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Symptomatic pseudarthrosis in ochronotic spine: case report

Rahimizadeh

Soufiani

Hassani

2017

SPI

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In this study the authors report the first example of spinal pseudarthrosis in a patient with ochronosis, and they describe the application of posterior-only 360° surgery as an alternative approach to combined anterior-posterior surgery in the management of pseudarthrosis of an ankylosed spine, regardless of its etiology. Spinal involvement in ochronosis produces loss of flexibility and ankylosis of thoracic and lumbar segments. Pseudarthrosis is a serious complication of the diseases that present with ankylosis of the spine. However, its occurrence in ochronotic spine has not been reported previously. Evaluation of progressive paraparesis in a 68-year-old man with ochronosis revealed pseudarthrosis at the T11–12 level. Circumferential dural sac decompression, debridement of the disc space, interbody fusion, and screw-rod fixation were all done via a posterior-only approach. Postoperatively the patient exhibited a marked recovery in terms of pain and neurological status. At the 3-month follow-up, he was able to walk independently. Ochronosis should be included in the etiology of pseudarthrosis. With aggravation of back pain and the appearance of neurological deficits in an already stable patient with any ankylosing disease, pseudarthrosis should be suspected. Furthermore, single-stage, 360°, posterior-only surgery may obviate the need for single-stage or staged anterior-posterior surgical intervention in patients with pseudarthrosis of the thoracic and lumbar spine.

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A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy

Cited by 9 publications

References 13 publications

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria

Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria

Symptomatic pseudarthrosis in ochronotic spine: case report

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