Inflammatory markers in patients with rheumatoid arthritis.

BACKGROUND: Autoimmune diseases such as rheumatoid arthritis (RA) are the consequence of a persistent imbalance between pro- and anti-inflammatory immune mechanisms, leading to chronic inflammation. The objective of this study was to determine whether the high sensitive C-reactive protein (hs-CRP) and cytokines are elevated in RA patients and to investigate the relationship between these markers and disease activity in RA, measured by disease activity score 28 (DAS28). METHODS: We studied 110 RA patients according to American College of Rheumatology revised criteria for RA, and 55 controls matched by age and sex. Serum levels of hs-CRP and cytokines interleukin (IL)-6, IL-10 and tumour necrosis factor-α (TNF-α) were estimated and correlated with the DAS28. Serum hs-CRP was assayed immunoturbidimetrically and cytokines were analysed by commercially available ELISA kit. RESULTS: We found that RA patients had significantly higher levels of serum hs-CRP (p<0.001), IL-6 (p<0.001), TNF-α (p<0.001), and IL-10 (p<0.01) as compared to healthy controls. hs-CRP, IL-6 and TNF-α correlated positively (p<0.001) and IL-10 correlated negatively (p<0.01) with DAS28. CONCLUSIONS: These results demonstrate that RA patients have high levels of inflammatory markers, and these levels are correlated with the DAS28. These findings suggest a possible role of these markers in the pathogenesis of RA. Moreover, these biomarkers can be used as markers of disease activity in the diagnosis and treatment of RA.

Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters.

Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 years old and the other 7, both MPS type I H/S, came to our diagnostic center. Hand-wrist radiographs revealed bullet-shaped phalanges with proximal pointing of the second to fifth metacarpals. Ultrasonographic examination showed splenomegaly in the younger child. Radiography of the pelvis showed a narrow pelvis with flared iliac wings. A skull skiagram showed J-shaped sella.

Plexiform neurofibroma in a 16-year-old girl.

Plexiform neurofibroma is a rare, poorly defined benign tumor of the peripheral nerve sheath. It spreads out just under the skin, or deeper in the body, and occurs exclusively in patients with neurofibromatosis type I. Facial plexiform neurofibroma may produce various degrees of cosmetic and functional deformities in the head and neck region. It is a virtually pathognomonic and often disabling feature of neurofibromatosis type I. We present a case of plexiform neurofibroma in an 18-year-old female.